H. Kaymakçalan

发表

Whole exome sequencing identifies recessive WDR62 mutations in severe brain malformations

Stephan J Sanders, H. Per, R. Bronen, 2010, Nature.

NGLY1 mutation causes neuromotor impairment, intellectual disability, and neuropathy.

H. Freeze, A. Caglayan, H. Kaymakçalan, 2015, European journal of medical genetics.

Mutation spectrum of congenital heart disease in a consanguineous Turkish population

H. Kaymakçalan, Shrikant Mane, R. Lifton, 2022, Molecular genetics & genomic medicine.

Assessment of Nasal Swab Samples, Environmental Microbiological Analyses and Respiratory Function Tests of Bakery Workers Working Under Modern Conditions: A Brief Report

H. Kaymakçalan, H. Issever, S. Susever, 2006 .

Prostaglandins: gastrointestinal effects and peptic ulcer disease.

H. Kaymakçalan, D. Wilson, 1981, The Medical clinics of North America.

Investigation of the lawsuits regarding down syndrome

H. Kaymakçalan, 2022, Marmara Medical Journal.

Mutations in LAMB1 cause cobblestone brain malformation without muscular or ocular abnormalities.

S. Gabriel, N. Šestan, A. Caglayan, 2013, American journal of human genetics.

Clinical, demographic and genetic features of patients with congenital heart disease : A single center experience

H. Kaymakçalan, E. Nikerel, W. Dong, 2022, Marmara Medical Journal.

A rare etiology of tetralogy of Fallot with pulmonary atresia: Renpenning syndrome.

H. Kaymakçalan, A. Ercan-Sencicek, W. Dong, 2022, Anatolian journal of cardiology.

Prevalence and clinical/molecular characteristics of PTEN mutations in Turkish children with autism spectrum disorders and macrocephaly

H. Kaymakçalan, A. Ercan-Sencicek, E. Nikerel, 2021, Molecular genetics & genomic medicine.

Epidemiology of superficial mycosis (tinea pedis, onychomycosis) in elementary school children in Istanbul, Turkey.

H. Kaymakçalan, R. Dişçi, Z. Erturan, 2006, Collegium antropologicum.

Expanding the Genotypic Spectrum of Bathing Suit Ichthyosis

J. Uitto, H. Kaymakçalan, A. Paller, 2017, JAMA dermatology.

Hypertrophic osteoarthropathy with myogenic tumors of the esophagus.

H. Kaymakçalan, B. Ghosh, F. Steigmann, 1980, American Journal of Gastroenterology.

A 10-Month-Old Infant with Progressive Abdominal Distension

H. Kaymakçalan, A. Giardino, P. Pasquariello, 2003 .

Genomic Analysis of Non-NF2 Meningiomas Reveals Mutations in TRAF7, KLF4, AKT1, and SMO

Murim Choi, John D. Overton, Philip H. Gutin, 2013, Science.

Bi-allelic loss of human CTNNA2, encoding αN-catenin, leads to ARP2/3 over-activity and disordered cortical neuronal migration

Kiely N. James, Martin W. Breuss, I. Miller, 2018, Nature Genetics.

Clinical and genomic characterization of distal duplications and deletions of chromosome 4q: Study of two cases and review of the literature

M. Seashore, H. Kaymakçalan, M. Mahoney, 2009, American journal of medical genetics. Part A.

ALPK3 gene mutation in a patient with congenital cardiomyopathy and dysmorphic features

Akdes Serin Harmanci, Murat Gunel, Ege Ulgen, 2017, Cold Spring Harbor molecular case studies.

Recessive LAMC3 mutations cause malformations of occipital cortical development

Murim Choi, Katja Doerschner, Ergin Atalar, 2011, Nature Genetics.

Biallelic Mutations in Citron Kinase Link Mitotic Cytokinesis to Human Primary Microcephaly.

S. Gabriel, A. Caglayan, H. Kaymakçalan, 2016, American journal of human genetics.

Assessment of nasal flora and respiratory function tests of bakery workers working under modern conditions

H. Kaymakçalan, H. Issever, S. Susever, 2005 .

Biallelic loss of human CTNNA2, encoding αN-catenin, leads to ARP2/3 complex overactivity and disordered cortical neuronal migration

Kiely N. James, Martin W. Breuss, A. Caglayan, 2018, Nature Genetics.

Congestive heart failure as cause of fulminant hepatic failure.

H. Kaymakçalan, F. Steigmann, P. Szanto, 1978, The American journal of medicine.

Gastric lipoma excision.

H. Kaymakçalan, P. Bright‐Asare, B. Dewan, 1981, Gastrointestinal endoscopy.

Brain malformations associated with Knobloch syndrome--review of literature, expanding clinical spectrum, and identification of novel mutations.

N. Šestan, A. Caglayan, H. Kaymakçalan, 2014, Pediatric neurology.

Prenatal Health, Educational Attainment, and Intergenerational Inequality: The Northern Finland Birth Cohort 1966 Study

H. Kaymakçalan, A. Taanila, J. Härkönen, 2012, Demography.

Eighth case of Li‐Campeau syndrome in a Turkish patient caused by a novel pathogenic variant in UBR7 and expanding the phenotype

H. Kaymakçalan, Saeed Farajzadeh Valilou, Y. Sahin, 2023, American journal of medical genetics. Part A.

Squamous papilloma of the esophagus.

H. Kaymakçalan, F. Steigmann, D. Dourdourekas, 1977, The American journal of gastroenterology.

Changes in peanut allergy prevalence in different ethnic groups in 2 time periods.

H. Kaymakçalan, G. Lack, A. Fox, 2015, The Journal of allergy and clinical immunology.

Correlation of PAPP-A values with maternal characteristics, biochemical and ultrasonographic markers of pregrancy

H. Kaymakçalan, J. Härkönen, B. Gungor, 2021, Marmara Medical Journal.