Y. Chinen

S. Khan, Yasuyuki Suzuki, M. Serafini, 2019, Biology of blood and marrow transplantation : journal of the American Society for Blood and Marrow Transplantation.

Impact of enzyme replacement therapy and hematopoietic stem cell transplantation in patients with Morquio A syndrome

T. Shimada, O. Sánchez, R. Giugliani, 2015, Drug design, development and therapy.

Additional findings of tibial dysplasia in a male with orofaciodigital syndrome type XVI

T. Kaname, K. Yanagi, Y. Chinen, 2022, Human Genome Variation.

Mucopolysaccharidosis type IVA (Morquio A disease): clinical review and current treatment.

Y. Suzuki, Yasuyuki Suzuki, W. Mackenzie, 2011, Current pharmaceutical biotechnology.

Long-term therapeutic efficacy of allogenic bone marrow transplantation in a patient with mucopolysaccharidosis IVA

Yasuyuki Suzuki, Y. Chinen, S. Tomatsu, 2014, Molecular genetics and metabolism reports.

An unusual case of oral surgical management in a patient with isovaleric acidemia and schizophrenia: A case report

Y. Chinen, Edward H. Ntege, Yusuke Shimizu, 2022, Biomedical reports.

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.

Small interstitial deletion of the long arm of chromosome 2 (2q24.3): Further delineation of 2q medial monosomy syndrome

Y. Chinen, K. Naritomi, T. Tohma, 1996, Japanese Journal of Human Genetics.

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.

Progressive macrothrombocytopenia and hearing loss in a large family with DIAPH1 related disease

T. Kaname, K. Yanagi, Y. Chinen, 2017, American journal of medical genetics. Part A.

Progressive hip joint subluxation in Saul‐Wilson syndrome

T. Kaname, K. Hata, G. Nishimura, 2015, American journal of medical genetics. Part A.

A novel homozygous missense SLC25A20 mutation in three CACT-deficient patients: clinical and autopsy data.

T. Kaname, K. Yanagi, Y. Chinen, 2020, Human genome variation.

Isovaleric acidemia: Therapeutic response to supplementation with glycine, l-carnitine, or both in combination and a 10-year follow-up case study

Y. Chinen, O. Sakamoto, T. Inokuchi, 2017, Molecular genetics and metabolism reports.

Six years’ accomplishment of the Initiative on Rare and Undiagnosed Diseases: nationwide project in Japan to discover causes, mechanisms, and cures

Y. Fukushima, T. Morio, H. Kurahashi, 2022, Journal of Human Genetics.

Phenotypic Variability and Newly Identified Mutations of the IVD Gene in Japanese Patients with Isovaleric Acidemia.

H. Mitsubuchi, S. Kure, Y. Chinen, 2015, The Tohoku journal of experimental medicine.

Brief Clinical Report Two Sisters With Toriello-Carey Syndrome

Y. Chinen, K. Naritomi, T. Tohma, 1999 .

Opitz trigonocephaly C syndrome in a boy with a de novo balanced reciprocal translocation t(3;18)(q13.13;q12.1)

T. Kaname, K. Yanagi, Y. Chinen, 2006, American journal of medical genetics. Part A.

Morquio A syndrome: diagnosis and current and future therapies.

W. Sly, T. Shimada, Yasuyuki Suzuki, 2014, Pediatric endocrinology reviews : PER.

Comprehensive investigation of CASK mutations and other genetic etiologies in 41 patients with intellectual disability and microcephaly with pontine and cerebellar hypoplasia (MICPCH)

J. Inazawa, N. Okamoto, H. Osaka, 2017, PloS one.

Heterozygous C‐propeptide mutations in COL1A1: Osteogenesis imperfecta type IIC and dense bone variant

Yukichi Tanaka, G. Nishimura, Y. Chinen, 2011, American journal of medical genetics. Part A.

Megalocornea-mental retardation syndrome: An additional case report

Y. Chinen, K. Naritomi, T. Tohma, 1997, Japanese Journal of Human Genetics.

Sanfilippo type B syndrome: five patients with an R565P homozygous mutation in the α-N-acetylglucosaminidase gene from the Okinawa islands in Japan

Y. Chinen, T. Tohma, Y. Izumikawa, 2005, Journal of Human Genetics.

Agenesis of corpus callosum in three sibs

Y. Chinen, K. Naritomi, Yoshihide Asato, 1997, Japanese Journal of Human Genetics.

Malpuech facial clefting syndrome in a Japanese boy with cardiac defects

Y. Chinen, K. Naritomi, 1995, Japanese Journal of Human Genetics.

A severe case of status dystonicus caused by a de novo KMT2B missense mutation.

T. Kaname, K. Yanagi, Y. Chinen, 2020, European journal of medical genetics.

Novel intragenic duplications and mutations of CASK in patients with mental retardation and microcephaly with pontine and cerebellar hypoplasia (MICPCH)

J. Inazawa, A. Hata, I. Imoto, 2011, Human Genetics.

Novel heparan sulfate assay by using automated high-throughput mass spectrometry: Application to monitoring and screening for mucopolysaccharidoses.

T. Shimada, R. Giugliani, Yasuyuki Suzuki, 2014, Molecular genetics and metabolism.

Hematopoietic stem cell transplantation in Morquio syndrome type A

Yasuyuki Suzuki, S. Kato, Y. Chinen, 2016 .

Two newly identified genomic mutations in a Japanese female patient with fructose-1,6-bisphosphatase (FBPase) deficiency.

Y. Chinen, N. Hyakuna, T. Ohta, 2002, Molecular genetics and metabolism.

Novel alternative splicing of human faciogenital dysplasia 1 gene

T. Kaname, K. Yanagi, Y. Chinen, 2004, Congenital anomalies.

NAOSITE : Nagasaki University ' s Academic Output SITE

N. Niikawa, K. Yoshiura, N. Matsumoto, 2017 .

［原著］Two novel mutations of the FGDl gene in Japanese patients with Aarskog Scott syndrome

T. Kaname, K. Yanagi, Y. Chinen, 2004 .

Germline Mutation of CBL Is Associated With Moyamoya Disease in a Child With Juvenile Myelomonocytic Leukemia and Noonan Syndrome‐Like Disorder

S. Kojima, H. Muramatsu, Y. Chinen, 2015, Pediatric blood & cancer.