Publications by authors named "Hande Kaymakçalan"

16Publications

1q21.1 Deletions and Duplications in 2 Siblings with Psychiatric Problems.

Indian J Pediatr 2019 11 4;86(11):1068. Epub 2019 Jul 4.

Department of Clinical Genetics, Yale University, New Haven, CT, USA.

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November 2019

Novel compound heterozygous mutations in GPT2 linked to microcephaly, and intellectual developmental disability with or without spastic paraplegia.

Am J Med Genet A 2018 02 11;176(2):421-425. Epub 2017 Dec 11.

Department of Neurosurgery, Program on Neurogenetics, Yale School of Medicine, New Haven, Connecticut.

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February 2018

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

Cold Spring Harb Mol Case Stud 2017 Sep 1;3(5). Epub 2017 Sep 1.

Departments of Neurosurgery, Neurobiology and Genetics, Yale School of Medicine, New Haven, Connecticut 06510, USA.

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September 2017

Expanding the Genotypic Spectrum of Bathing Suit Ichthyosis.

JAMA Dermatol 2017 06;153(6):537-543

Department of Dermatology, Yale University School of Medicine, New Haven, Connecticut10Department of Genetics, Yale University School of Medicine, New Haven, Connecticut11Department of Pathology, Yale University School of Medicine, New Haven, Connecticut.

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June 2017

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

Am J Hum Genet 2016 Aug 21;99(2):501-10. Epub 2016 Jul 21.

Howard Hughes Medical Institute, Rady Children's Institute of Genomic Medicine, University of California, San Diego, San Diego, CA 92093, USA; Laboratory for Pediatric Brain Disease, The Rockefeller University, New York, NY 10065, USA. Electronic address:

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August 2016

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

J Allergy Clin Immunol 2015 Feb 29;135(2):580-2. Epub 2014 Oct 29.

King's College London, MRC & Asthma UK Centre in Allergic Mechanisms of Asthma, Division of Asthma, Allergy and Lung Biology, Guy's and St Thomas' NHS Foundation Trust, London, United Kingdom.

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February 2015

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

Eur J Med Genet 2015 Jan 9;58(1):39-43. Epub 2014 Sep 9.

Departments of Neurosurgery, Neurobiology and Genetics, Yale Program in Neurogenetics, Yale School of Medicine, New Haven 06510, CT, USA. Electronic address:

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January 2015

Prenatal health, educational attainment, and intergenerational inequality: the Northern Finland Birth Cohort 1966 Study.

Demography 2012 May;49(2):525-52

Demography Unit, Department of Sociology, Stockholm University, S-106 91 Stockholm, Sweden.

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May 2012

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

Coll Antropol 2006 Mar;30(1):119-24

Department of Public Health, Faculty of Medicine, University of Istanbul, Istanbul, Turkey.

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March 2006