R. Kosaki

发表

A de novo mutation (R279C) in the P63 gene in a patient with EEC syndrome

R. Kosaki, H. Ohashi, H. Yoshihashi, 2001, Clinical genetics.

PTPN11 (protein-tyrosine phosphatase, nonreceptor-type 11) mutations in seven Japanese patients with Noonan syndrome.

T. Ogata, R. Kosaki, K. Kosaki, 2002, The Journal of clinical endocrinology and metabolism.

SNP array screening of cryptic genomic imbalances in 450 Japanese subjects with intellectual disability and multiple congenital anomalies previously negative for large rearrangements

J. Inazawa, S. Saitoh, A. Hata, 2016, Journal of Human Genetics.

EEC syndrome‐like phenotype in a patient with an IRF6 mutation

R. Kosaki, K. Kosaki, C. Torii, 2012, American journal of medical genetics. Part A.

Split hand foot malformation with whorl‐like pigmentary pattern: Phenotypic expression of somatic mosaicism for the p63 mutation

T. Nakajima, R. Kosaki, K. Kosaki, 2008, American journal of medical genetics. Part A.

Absent inner dynein arms in a fetus with familial hydrocephalus‐situs abnormality

R. Kosaki, K. Kosaki, Takao Takahashi, 2004, American journal of medical genetics. Part A.

Multiplex PCR/liquid chromatography assay for screening of subtelomeric rearrangements.

J. Inazawa, R. Kosaki, K. Kosaki, 2007, Genetic testing.

Living donor liver transplantation for glycogen storage disease type Ib

R. Kosaki, K. Abe, Y. Naiki, 2009, Liver transplantation : official publication of the American Association for the Study of Liver Diseases and the International Liver Transplantation Society.

Neocentromere marker chromosome of distal 3q mimicking dup(3q) syndrome phenotype

R. Kosaki, K. Kosaki, Takao Takahashi, 2008, American journal of medical genetics. Part A.

Age‐dependent change in behavioral feature in Rubinstein‐Taybi syndrome

R. Kosaki, K. Kosaki, Takao Takahashi, 2012, Congenital anomalies.

Temple syndrome: comprehensive molecular and clinical findings in 32 Japanese patients

T. Ogata, S. Saitoh, R. Kosaki, 2017, Genetics in Medicine.

Living‐donor liver transplantation for carbamoyl phosphate synthetase 1 deficiency

R. Kosaki, S. Uemoto, Y. Naiki, 2010, Pediatric transplantation.

O. Migita, R. Kosaki, S. Uemoto, 2011, American journal of transplantation : official journal of the American Society of Transplantation and the American Society of Transplant Surgeons.

Acute myeloid leukemia‐associated DNMT3A p.Arg882His mutation in a patient with Tatton‐Brown–Rahman overgrowth syndrome as a constitutional mutation

M. Kubota, R. Kosaki, K. Kosaki, 2017, American journal of medical genetics. Part A.

Imprinting of human GRB10 and its mutations in two patients with Russell-Silver syndrome.

T. Ogata, R. Kosaki, K. Kosaki, 2000, American journal of human genetics.

Comprehensive and quantitative multilocus methylation analysis reveals the susceptibility of specific imprinted differentially methylated regions to aberrant methylation in Beckwith–Wiedemann syndrome with epimutations

T. Mukai, T. Ogata, R. Kosaki, 2014, Genetics in Medicine.

Congenital Hypothyroidism in Peters Plus Syndrome

R. Kosaki, K. Kosaki, T. Hasegawa, 2006, Ophthalmic genetics.

Reply to Mergenthaler et al.

T. Ogata, R. Kosaki, K. Kosaki, 2001 .

Two patients with Rubinstein–Taybi syndrome and severe pulmonary interstitial involvement

R. Kosaki, K. Kosaki, C. Torii, 2010, American journal of medical genetics. Part A.

Prevalence of Immunological Defects in a Cohort of 97 Rubinstein–Taybi Syndrome Patients

V. Lougaris, R. Badolato, R. Kosaki, 2020, Journal of Clinical Immunology.

Isoform-specific imprinting of the human PEG1/MEST gene.

W. Craigen, R. Kosaki, K. Kosaki, 2000, American journal of human genetics.

Constructive rescue of TFIIH instability by an alternative isoform of XPD derived from a mutated XPD allele in mild but not severe XP-D/CS

R. Kosaki, Chie Ishigami, Kiyoji Tanaka, 2015, Journal of Human Genetics.

Characterization of the aryl hydrocarbon receptor repressor gene and association of its Pro185Ala polymorphism with micropenis.

M. Tomita, T. Ogata, R. Kosaki, 2002, Teratology.

The spectrum of ZEB2 mutations causing the Mowat–Wilson syndrome in Japanese populations

K. Yokochi, N. Nomura, R. Kosaki, 2014, American journal of medical genetics. Part A.

Severe Liver Disorder Following Liver Transplantation in STING-Associated Vasculopathy with Onset in Infancy

R. Kosaki, K. Kosaki, M. Onodera, 2021, Journal of Clinical Immunology.

The safety of pranlukast and montelukast during the first trimester of pregnancy: A prospective, two‐centered cohort study in Japan

R. Kosaki, Kunihiko Takahashi, J. Ogura, 2022, Congenital anomalies.

Donepezil Significantly Improves Abilities in Daily Lives of Female down Syndrome Patients with Severe Cognitive Impairment: A 24-Week Randomized, Double-Blind, Placebo-Controlled Trial

R. Kosaki, H. Sasaki, M. Nakashima, 2011, International journal of psychiatry in medicine.

Ophthalmic features of CHARGE syndrome with CHD7 mutations

R. Kosaki, K. Kosaki, N. Okamoto, 2012, American journal of medical genetics. Part A.

An Alu retrotransposition‐mediated deletion of CHD7 in a patient with CHARGE syndrome

T. Hayakawa, N. Takahata, R. Kosaki, 2007, American journal of medical genetics. Part A.

Screening for CHARGE syndrome mutations in the CHD7 gene using denaturing high-performance liquid chromatography.

R. Kosaki, K. Kosaki, C. Torii, 2006, Genetic testing.

Overgrowth of prenatal onset associated with submicroscopic 9q22.3 deletion

R. Kosaki, K. Kosaki, C. Torii, 2011, American journal of medical genetics. Part A.

Identification of COL2A1 mutations in platyspondylic skeletal dysplasia, Torrance type

R. Kosaki, Y. Makita, S. Ikegawa, 2004, Journal of Medical Genetics.

Timothy syndrome‐like condition with syndactyly but without prolongation of the QT interval

R. Kosaki, K. Kosaki, H. Ono, 2018, American journal of medical genetics. Part A.

Novel COL9A3 mutation in a family with multiple epiphyseal dysplasia

R. Kosaki, H. Ohashi, S. Ikegawa, 2005, American journal of medical genetics. Part A.

Novel and recurrent mutations clustered in the von Willebrand factor A domain of MATN3 in multiple epiphyseal dysplasia

R. Kosaki, H. Ohashi, S. Ikegawa, 2004, Human mutation.

Porencephaly in a fetus and HANAC in her father: Variable expression of COL4A1 mutation

R. Kosaki, K. Kosaki, T. Takenouchi, 2015, American journal of medical genetics. Part A.

Severe neuroglycopenic symptoms due to nonketotic hypoglycemia in children with cardio-facio-cutaneous syndrome.

R. Kosaki, Y. Aoki, N. Shimojo, 2022, American journal of medical genetics. Part A.

A novel mutation in the FOXL2 gene in a patient with blepharophimosis syndrome: Differential role of the polyalanine tract in the development of the ovary and the eyelid

T. Ogata, R. Kosaki, K. Kosaki, 2002, Ophthalmic genetics.

Interstitial microdeletion of 4p16.3: Contribution of WHSC1 haploinsufficiency to the pathogenesis of developmental delay in Wolf–Hirschhorn syndrome

R. Kosaki, K. Kosaki, C. Torii, 2010, American journal of medical genetics. Part A.

Deletion at chromosome 10p11.23-p12.1 defines characteristic phenotypes with marked midface retrusion

J. Inazawa, A. Hata, R. Kosaki, 2012, Journal of Human Genetics.

Case report: Adult phenotype of Mulvihill–Smith syndrome

K. Tsubota, R. Kosaki, K. Kosaki, 2009, American journal of medical genetics. Part A.

Mosaic overgrowth with fibroadipose hyperplasia due to AKT1 mutation

Y. Sakamoto, R. Kosaki, K. Kosaki, 2015, American journal of medical genetics. Part A.

Branchial arch defects and 19p13.12 microdeletion: Defining the critical region into a 0.8 M base interval

K. Kishi, R. Kosaki, K. Kosaki, 2011, American journal of medical genetics. Part A.

Molecular pathology of Shprintzen–Goldberg syndrome

R. Kosaki, K. Kosaki, M. Matsumoto, 2006, American journal of medical genetics. Part A.

Japanese pathogenic variant database: DPV

Y. Okazaki, R. Kosaki, K. Kosaki, 2018, Translational Science of Rare Diseases.

Concurrent deletion of BMP4 and OTX2 genes, two master genes in ophthalmogenesis.

R. Kosaki, K. Kosaki, T. Takenouchi, 2013, European journal of medical genetics.

Axenfeld–Rieger anomaly and Axenfeld–Rieger syndrome: Clinical, molecular‐cytogenetic, and DNA array analyses of three patients with chromosomal defects at 6p25

N. Matsumoto, R. Kosaki, H. Tonoki, 2011, American journal of medical genetics. Part A.

Large-scale mutational analysis in the EXT1 and EXT2 genes for Japanese patients with multiple osteochondromas

R. Kosaki, K. Shimizu, H. Narimatsu, 2016, BMC Genetics.

Letters to the Editor Isoform-specific Imprinting of the Human Peg1/ Mest Gene Figure 2 Electronic-database Information Involvement of the Hlxb9 Homeobox Gene in Currarino Syndrome Collection of Patients with Anorectal and Sacral Anomalies in This Study

W. Craigen, R. Kosaki, K. Kosaki, 2022 .

The clinical characteristics of Asian patients with classical-type Hutchinson–Gilford progeria syndrome

K. Ihara, R. Kosaki, K. Yokote, 2017, Journal of Human Genetics.

Two distinctive classic genetic syndromes, 22q11.2 deletion syndrome and Angelman syndrome, occurring within the same family

O. Migita, R. Kosaki, K. Kosaki, 2009, American journal of medical genetics. Part A.

Macrothrombocytopenia and developmental delay with a de novo CDC42 mutation: Yet another locus for thrombocytopenia and developmental delay

R. Kosaki, K. Kosaki, T. Takenouchi, 2015, American journal of medical genetics. Part A.

Screening for Alagille syndrome mutations in the JAG1 and NOTCH2 genes using denaturing high-performance liquid chromatography.

R. Kosaki, K. Kosaki, C. Torii, 2007, Genetic testing.

Mutation analysis of left-right axis determining genes in NOD and ICR, strains susceptible to maternal diabetes.

R. Kosaki, K. Kosaki, B. Casey, 2001, Teratology.

Prenatal diagnosis of fetal skeletal dysplasia with 3D CT

R. Kosaki, G. Nishimura, H. Sago, 2012, Pediatric Radiology.

Phenotypic spectrum of CHARGE syndrome with CHD7 mutations.

Y. Fukushima, R. Kosaki, K. Kosaki, 2006, The Journal of pediatrics.

Novel overgrowth syndrome phenotype due to recurrent de novo PDGFRB mutation.

H. Okano, R. Kosaki, K. Kosaki, 2015, The Journal of pediatrics.

Detailed analysis of 26 cases of 1q partial duplication/triplication syndrome

K. Yoshiura, R. Kosaki, H. Ohashi, 2016, American journal of medical genetics. Part A.

Cleidocranial dysplasia plus vascular anomalies with 6p21.2 microdeletion spanning RUNX2 and VEGF

R. Kosaki, K. Kosaki, Takao Takahashi, 2006, American journal of medical genetics. Part A.

Multiple café au lait spots in familial patients with MAP2K2 mutation

H. Saya, R. Kosaki, K. Kosaki, 2014, American journal of medical genetics. Part A.

Clinical application of array-based comparative genomic hybridization by two-stage screening for 536 patients with mental retardation and multiple congenital anomalies

Y. Fukushima, J. Inazawa, S. Saitoh, 2011, Journal of Human Genetics.

Neuroimaging evaluation and successful treatment by using directional deep brain stimulation and levodopa in a patient with GNAO1-associated movement disorder: A case report

Y. Shimo, G. Oyama, N. Hattori, 2020, Journal of the Neurological Sciences.

Characterization and mutation analysis of human LEFTY A and LEFTY B, homologues of murine genes implicated in left-right axis development.

J. Belmont, R. Kosaki, K. Kosaki, 1999, American journal of human genetics.

A female newborn having mosaicism with near‐tetraploidy and trisomy 18

R. Kosaki, H. Sago, Yushi Ito, 2016, American journal of medical genetics. Part A.

Two infants with mild, atypical clinical features of Kagami-Ogata syndrome caused by epimutation.

R. Kosaki, T. Futatani, M. Kagami, 2022, European journal of medical genetics.

Discrepancies in cytogenetic results between amniocytes and postnatally obtained blood: trisomy 9 mosaicism

R. Kosaki, K. Kosaki, Takao Takahashi, 2006, Congenital anomalies.

Identification of a novel missense mutation of MAF in a Japanese family with congenital cataract by whole exome sequencing: A clinical report and review of literature

Y. Fukushima, R. Kosaki, Y. Aoki, 2014, American journal of medical genetics. Part A.

Human homolog of the mouse imprinted gene Impact resides at the pericentric region of chromosome 18 within the critical region for bipolar affective disorder

M. Itoh, R. Kosaki, T. Suzuki, 2001, Molecular Psychiatry.

Prenatal genetic testing for a microdeletion at chromosome 14q32.2 imprinted region leading to UPD(14)pat‐like phenotype

T. Ogata, R. Kosaki, K. Kurosawa, 2014, American journal of medical genetics. Part A.

Refining chromosomal region critical for Down syndrome‐related heart defects with a case of cryptic 21q22.2 duplication

N. Matsumoto, R. Kosaki, K. Kosaki, 2005, Congenital anomalies.

Taste after reduction of the tongue in Beckwith-Wiedemann syndrome.

R. Kosaki, H. Ohashi, T. Maeda, 2006, The British journal of oral & maxillofacial surgery.

Somatic CTNNB1 mutation in hepatoblastoma from a patient with Simpson–Golabi–Behmel syndrome and germline GPC3 mutation

R. Kosaki, K. Kosaki, T. Takenouchi, 2014, American journal of medical genetics. Part A.

Daytime somnolence in an adult with smith–magenis syndrome

R. Kosaki, T. Takenouchi, C. Torii, 2013, American journal of medical genetics. Part A.

Left-right axis malformations associated with mutations in ACVR2B, the gene for human activin receptor type IIB.

M. Gebbia, J. Towbin, R. Kosaki, 1999, American journal of medical genetics.

Japanese founder duplications/triplications involving BHLHA9 are associated with split-hand/foot malformation with or without long bone deficiency and Gollop-Wolfgang complex

S. Takada, T. Ogata, K. Yoshiura, 2014, Orphanet Journal of Rare Diseases.

Screening for partial deletions in the CREBBP gene in Rubinstein-Taybi syndrome patients using multiplex PCR/liquid chromatography.

R. Kosaki, K. Kosaki, C. Torii, 2006, Genetic testing.

1p34.3 deletion involving GRIK3: Further clinical implication of GRIK family glutamate receptors in the pathogenesis of developmental delay

R. Kosaki, K. Kosaki, T. Takenouchi, 2014, American journal of medical genetics. Part A.

DNA-based prenatal exclusion of harlequin ichthyosis.

M. Akiyama, H. Shimizu, R. Kosaki, 2008, Journal of the American Academy of Dermatology.

Genome analysis in sick neonates and infants: high-yield phenotypes and contribution of small copy number variations.

Masatoshi Kondo, R. Kosaki, K. Kosaki, 2022, The Journal of pediatrics.

Prevalence of Immunological Defects in a Cohort of 97 Rubinstein–Taybi Syndrome Patients

V. Lougaris, R. Badolato, R. Kosaki, 2020, Journal of Clinical Immunology.

Redefining the phenotypic spectrum of de novo heterozygous CDK13 variants: Three patients without cardiac defects.

R. Kosaki, K. Kosaki, T. Takenouchi, 2017, European journal of medical genetics.

Heterozygous tandem duplication within the PTCH1 gene results in nevoid basal cell carcinoma syndrome

T. Miyashita, R. Kosaki, K. Nagao, 2012, American journal of medical genetics. Part A.

Methylation status of genes escaping from X-chromosome inactivation in patients with X-chromosome rearrangements

R. Kosaki, K. Nakabayashi, Y. Hasegawa, 2021, Clinical epigenetics.

Severe congenital lipodystrophy and a progeroid appearance: Mutation in the penultimate exon of FBN1 causing a recognizable phenotype

Y. Sakamoto, R. Kosaki, K. Kosaki, 2013, American journal of medical genetics. Part A.

Two distinctive mechanisms leading to disruption of the SHOX transcription unit in a single family

R. Kosaki, K. Kosaki, Takao Takahashi, 2007, American journal of medical genetics. Part A.

Living‐donor liver transplantation for propionic acidemia

R. Kosaki, T. Yorifuji, Y. Naiki, 2012, Pediatric transplantation.

Embryonic expression profile of chicken CHD7, the ortholog of the causative gene for CHARGE syndrome.

Y. Okada, R. Kosaki, K. Kosaki, 2007, Birth defects research. Part A, Clinical and molecular teratology.

Diagnosis of maternal uniparental disomy of chromosome 7 with a methylation specific PCR assay

L. Shaffer, W. Craigen, R. Kosaki, 2000, Journal of medical genetics.

A Neonate with Mucopolysaccharidosis Type VII with Intractable Ascites

R. Kosaki, M. Kosuga, H. Sago, 2022, American Journal of Perinatology Reports.

Four‐decade‐old mummified umbilical tissue making retrospective molecular diagnosis of ornithine carbamoyltransferase deficiency

R. Kosaki, K. Kosaki, T. Takenouchi, 2014, American journal of medical genetics. Part A.

Mutations in SERPINB7, encoding a member of the serine protease inhibitor superfamily, cause Nagashima-type palmoplantar keratosis.

A. Shiohama, Takashi Sasaki, J. Kudoh, 2013, American Journal of Human Genetics.

Microdeletion of the Down syndrome critical region at 21q22

J. Kudoh, R. Kosaki, K. Kosaki, 2010, American journal of medical genetics. Part A.

Complete mutation analysis panel of the 39 human HOX genes.

M. Tomita, W. McGinnis, R. Kosaki, 2001, Teratology.

Clinical utility of an array comparative genomic hybridization analysis for Williams syndrome

R. Kosaki, K. Kosaki, C. Torii, 2014, Congenital anomalies.

Cri-du-Chat Syndrome Cytogenetically Cryptic Recombination Aneusomy of Chromosome 5: Implications in Recurrence Risk Estimation

R. Kosaki, K. Kosaki, C. Torii, 2010, Molecular Syndromology.

A founder effect of c.1938delC in ITGB4 underlies junctional epidermolysis bullosa and its application for prenatal testing

M. Akiyama, H. Shimizu, T. Kusaka, 2011, Experimental dermatology.

Fluorescence-based DHPLC for allelic quantification by single-nucleotide primer extension.

R. Kosaki, H. Yoshihashi, T. Suzuki, 2001, Journal of biochemical and biophysical methods.

Comprehensive screening of CREB‐binding protein gene mutations among patients with Rubinstein‐Taybi syndrome using denaturing high‐performance liquid chromatography

R. Kosaki, K. Kosaki, Y. Makita, 2005, Congenital anomalies.

Comprehensive screening of the thiopurine methyltransferase polymorphisms by denaturing high-performance liquid chromatography.

R. Kosaki, K. Kosaki, C. Torii, 2005, Genetic testing.

Construction of a high-density and high-resolution human chromosome X array for comparative genomic hybridization analysis

J. Inazawa, R. Kosaki, S. Mizutani, 2007, Journal of Human Genetics.

Consecutive medical exome analysis at a tertiary center: Diagnostic and health‐economic outcomes

M. Kubota, R. Kosaki, K. Kosaki, 2020, American journal of medical genetics. Part A.

Large-scale mutational analysis in the EXT1 and EXT2 genes for Japanese patients with multiple osteochondromas

R. Kosaki, H. Akiyama, K. Shimizu, 2016, BMC Genetics.

Immunohistochemical evidence for the brevican‐tenascin‐R interaction: Colocalization in perineuronal nets suggests a physiological role for the interaction in the adult rat brain

R. Kosaki, E. Berglund, B. Ranscht, 1999, The Journal of comparative neurology.

Vein of Galen Aneurysmal Malformation Associated With an Endoglin Gene Mutation

R. Matsuoka, R. Kosaki, S. Nosaka, 2011, Pediatrics.

Microduplication of Xq24 and Hartsfield syndrome with holoprosencephaly, ectrodactyly, and clefting

R. Kosaki, K. Kosaki, T. Takenouchi, 2012, American journal of medical genetics. Part A.

Comprehensive clinical and molecular studies in split-hand/foot malformation: identification of two plausible candidate genes (LRP6 and UBA2)

S. Takada, T. Ogata, R. Kosaki, 2019, European Journal of Human Genetics.

Mutations in B3GALT6, which encodes a glycosaminoglycan linker region enzyme, cause a spectrum of skeletal and connective tissue disorders.

D. Chitayat, N. Matsumoto, Hironori Ito, 2013, American journal of human genetics.

Severe craniosynostosis with Noonan syndrome phenotype associated with SHOC2 mutation: Clinical evidence of crosslink between FGFR and RAS signaling pathways

Y. Sakamoto, K. Kishi, R. Kosaki, 2014, American journal of medical genetics. Part A.

Biallelic mutations in LARS2 can cause Perrault syndrome type 2 with neurologic symptoms

R. Kosaki, K. Kosaki, R. Horikawa, 2018, American journal of medical genetics. Part A.

11q23 deletion syndrome (Jacobsen syndrome) with severe bleeding: a case report

R. Kosaki, A. Ishiguro, S. Kunishima, 2018, Journal of Medical Case Reports.

Trisomy 9 Mosaicism Diagnosed In Utero

R. Kosaki, H. Sago, Hironori Takahashi, 2010, Obstetrics and Gynecology International.

Wide phenotypic variations within a family with SALL1 mutations: Isolated external ear abnormalities to Goldenhar syndrome

R. Kosaki, K. Kosaki, H. Yamada, 2007, American journal of medical genetics. Part A.

Paramagnetic signals in the globus pallidus as late radiographic sign of juvenile-onset GM1 gangliosidosis.

R. Kosaki, K. Kosaki, T. Takenouchi, 2015, Pediatric neurology.

Transverse limb defect in a patient with Jacobsen syndrome: Concurrence of malformation and disruption

R. Kosaki, K. Kosaki, C. Torii, 2010, American journal of medical genetics. Part A.

Familial hemiplegic migraine with a PRRT2 mutation: Phenotypic variations and carbamazepine efficacy

M. Kubota, R. Kosaki, K. Kosaki, 2020, Brain and Development.

Rothmund-Thomson syndrome investigated by two nationwide surveys in Japan.

K. Ihara, J. Takita, R. Kosaki, 2022, Pediatrics international : official journal of the Japan Pediatric Society.

Histopathological and behavioral improvement of murine mucopolysaccharidosis type VII by intracerebral transplantation of neural stem cells.

T. Shimazaki, H. Okano, H. Endo, 2006, Molecular therapy : the journal of the American Society of Gene Therapy.

A severe form of autosomal recessive spinocerebellar ataxia associated with novel PMPCA variants

M. Kubota, R. Kosaki, K. Kosaki, 2020, Brain and Development.

Homozygous EDNRB mutation in a patient with Waardenburg syndrome type 1.

R. Kosaki, H. Kaneko, T. Matsunaga, 2017, Auris, nasus, larynx.

Position‐specific expression of Hox genes along the gastrointestinal tract

M. Tomita, H. Shimada, R. Kosaki, 2004, Congenital anomalies.

Recurrent acute necrotizing encephalopathy in a boy with RANBP2 mutation and thermolabile CPT2 variant: The first case of ANE1 in Japan

M. Mizuguchi, M. Kubota, R. Kosaki, 2021, Brain and Development.

Tissue‐limited ring chromosome 18 mosaicism as a cause of Pitt–Hopkins syndrome

S. Saitoh, R. Kosaki, K. Kosaki, 2012, American journal of medical genetics. Part A.

Comprehensive screening of multiple epiphyseal dysplasia mutations in Japanese population

R. Kosaki, H. Ohashi, S. Ikegawa, 2006, American journal of medical genetics. Part A.

Impact of a SLC24A5 variant on the retinal pigment epithelium of a Japanese patient with oculocutaneous albinism type 6

H. Yamashita, K. Wakamatsu, S. Ito, 2021, Pigment cell & melanoma research.

Trismus-pseudocamptodactyly syndrome with bilateral hypoplastic mandibular condyles and shallow mandibular fossa: A case report

R. Kosaki, G. Nishimura, T. Hasegawa, 2018, Oral Science International.

Oral Baclofen Therapy for Multifocal Spinal Myoclonus with TBC1D24 Variant

R. Kosaki, T. Takenouchi, Hisato Suzuki, 2023, Movement disorders clinical practice.

Deletion involving the TWIST locus and the HOXA cluster: A contiguous gene syndrome on 7p?

R. Kosaki, K. Kosaki, H. Ohashi, 2005, Congenital anomalies.

Overproduction of hyaluronan by expression of the hyaluronan synthase Has2 enhances anchorage-independent growth and tumorigenicity.

R. Kosaki, K. Watanabe, Y. Yamaguchi, 1999, Cancer research.

Homozygous EDNRB mutation in a patient with Waardenburg syndrome type 1.

R. Kosaki, H. Kaneko, T. Matsunaga, 2017, Auris, nasus, larynx.

Vein of Galen Aneurysmal Malformation Associated With an Endoglin Gene Mutation

R. Matsuoka, R. Kosaki, S. Nosaka, 2011, Pediatrics.

Vein of Galen Aneurysmal Malformation Associated With an Endoglin Gene

R. Kosaki, Yushi Itoh, Masaki Shintani, 2012 .

Diagnosis of maternal uniparental disomy of chromosome 7 with a methylation specific PCR assay

L. Shaffer, W. Craigen, R. Kosaki, 2000, Journal of medical genetics.

Axenfeld–Rieger anomaly and Axenfeld–Rieger syndrome: Clinical, molecular‐cytogenetic, and DNA array analyses of three patients with chromosomal defects at 6p25

N. Matsumoto, R. Kosaki, H. Tonoki, 2011, American journal of medical genetics. Part A.