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HACE1 deficiency leads to structural and functional neurodevelopmental defects

Neurology. Genetics, 2019-06, Vol.5 (3), p.e330-e330

2019

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Chromosomal-array analysis reveals partial 11q duplication and partial 12p deletion in a mildly affected case

American journal of medical genetics. Part A, 2014-07, Vol.164A (7), p.1770-1776

2014

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Warburg Micro Syndrome 1 due to Segmental Paternal Uniparental Isodisomy of Chromosome 2 Detected by Whole-Exome Sequencing and Homozygosity Mapping

Cytogenetic and genome research, 2020-07, Vol.160 (6), p.309-315

2020

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RAP1-mediated MEK/ERK pathway defects in Kabuki syndrome

The Journal of clinical investigation, 2015-09, Vol.125 (9), p.3585-3599

2015

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LRP5- linked osteoporosis-pseudoglioma syndrome mimicking isolated microphthalmia

European journal of medical genetics, 2017-03, Vol.60 (3), p.200-204

2017

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Aetiological Evaluation of Oligodontia in a Three-Generation Family

Oral health & preventive dentistry, 2020-04, Vol.18, p.271

2020

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Mutations Affecting the BHLHA9 DNA-Binding Domain Cause MSSD, Mesoaxial Synostotic Syndactyly with Phalangeal Reduction, Malik-Percin Type

American journal of human genetics, 2014-12, Vol.95 (6), p.649-659

2014

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Clinical findings in cases with 9q deletion encompassing the 9q21.11q21.32 region

Turkish journal of pediatrics, 2018-01, Vol.60 (1), p.94-98

2018

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Long-term follow-up and novel variant in Suleiman-El-Hattab syndrome: Expanding the genotypic and clinical spectrum of a rare neurodevelopmental disorder

European journal of medical genetics, 2023-09, Vol.66 (9), p.104809-104809, Article 104809

2023

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Expanding the phenotype and genotype in Thauvin‐Robinet‐Faivre syndrome: A new patient with a novel variant and additional clinical findings

American journal of medical genetics. Part A, 2023-08, Vol.191 (8), p.2232-2239

2023

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A homozygous missense variant in the WRN gene segregating in a family with progressive pulmonary failure with recurrent spontaneous pneumothorax and interstitial lung disease

American journal of medical genetics. Part A, 2023-01, Vol.191 (1), p.220-227

2023

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Thiopurine methyltransferase polymorphisms and mercaptopurine tolerance in Turkish children with acute lymphoblastic leukemia

Cancer chemotherapy and pharmacology, 2011-11, Vol.68 (5), p.1155-1159

2011

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A case of U2AF2-related developmental disorder: long-term follow-up and expansion of the phenotype

Clinical dysmorphology, 2024-10, Vol.33 (4), p.171-175

2024

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Mutation of the gene encoding the ROR2 tyrosine kinase causes autosomal recessive Robinow syndrome

Nature genetics, 2000-08, Vol.25 (4), p.423-426

2000

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MEFV gene mutations and its impact on the clinical course in ulcerative colitis patients

Rheumatology international, 2011-07, Vol.31 (7), p.859-864

2011

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Human microphthalmia associated with mutations in the retinal homeobox gene CHX10

Nature genetics, 2000-08, Vol.25 (4), p.397-401

2000

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Effects of microalgae chlorella species crude extracts on intestinal adaptation in experimental short bowel syndrome

World journal of gastroenterology : WJG, 2008-07, Vol.14 (28), p.4512-4517

2008

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Blood-derived human iPS cells generate optic vesicle-like structures with the capacity to form retinal laminae and develop synapses

Investigative ophthalmology & visual science, 2012-04, Vol.53 (4), p.2007-2019

2012

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Y chromosome azoospermia factor region microdeletions and recurrent pregnancy loss

American journal of obstetrics and gynecology, 2008-01, Vol.199 (6), p.662.e1-662.e5

2008

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Mutations in DONSON disrupt replication fork stability and cause microcephalic dwarfism

Nature genetics, 2017-04, Vol.49 (4), p.537-549

2017

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Modeling Human Retinal Development with Patient‐Specific Induced Pluripotent Stem Cells Reveals Multiple Roles for Visual System Homeobox 2

Stem cells (Dayton, Ohio), 2014-06, Vol.32 (6), p.1480-1492

2014

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A case with de novo inv dup del(8p) associated with dextrocardia and corpus callosum agenesis

Pediatrics international, 2010-10, Vol.52 (5), p.845-846

2010

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Identification of Three Novel FBN1 Mutations and Their Phenotypic Relationship of Marfan Syndrome

Genetic testing and molecular biomarkers, 2018-08, Vol.22 (8), p.474-480

2018

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Rectal duplications accompanying rectovestibular fistula: Report of two cases

Pediatrics international, 2013-08, Vol.55 (4), p.e86-e89

2013

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Supernumerary marker chromosome 15 in a male with azoospermia and open bite deformity

Asian journal of andrology, 2009-09, Vol.11 (5), p.617-622

2009

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HACE1 deficiency leads to structural and functional neurodevelopmental defects

Chromosomal-array analysis reveals partial 11q duplication and partial 12p deletion in a mildly affected case

Warburg Micro Syndrome 1 due to Segmental Paternal Uniparental Isodisomy of Chromosome 2 Detected by Whole-Exome Sequencing and Homozygosity Mapping

RAP1-mediated MEK/ERK pathway defects in Kabuki syndrome

LRP5- linked osteoporosis-pseudoglioma syndrome mimicking isolated microphthalmia

Aetiological Evaluation of Oligodontia in a Three-Generation Family

Mutations Affecting the BHLHA9 DNA-Binding Domain Cause MSSD, Mesoaxial Synostotic Syndactyly with Phalangeal Reduction, Malik-Percin Type

Clinical findings in cases with 9q deletion encompassing the 9q21.11q21.32 region

Long-term follow-up and novel variant in Suleiman-El-Hattab syndrome: Expanding the genotypic and clinical spectrum of a rare neurodevelopmental disorder

Expanding the phenotype and genotype in Thauvin‐Robinet‐Faivre syndrome: A new patient with a novel variant and additional clinical findings

A homozygous missense variant in the WRN gene segregating in a family with progressive pulmonary failure with recurrent spontaneous pneumothorax and interstitial lung disease

Thiopurine methyltransferase polymorphisms and mercaptopurine tolerance in Turkish children with acute lymphoblastic leukemia

A case of U2AF2-related developmental disorder: long-term follow-up and expansion of the phenotype

Mutation of the gene encoding the ROR2 tyrosine kinase causes autosomal recessive Robinow syndrome

MEFV gene mutations and its impact on the clinical course in ulcerative colitis patients

Human microphthalmia associated with mutations in the retinal homeobox gene CHX10

Effects of microalgae chlorella species crude extracts on intestinal adaptation in experimental short bowel syndrome

Blood-derived human iPS cells generate optic vesicle-like structures with the capacity to form retinal laminae and develop synapses

Y chromosome azoospermia factor region microdeletions and recurrent pregnancy loss

Mutations in DONSON disrupt replication fork stability and cause microcephalic dwarfism

Modeling Human Retinal Development with Patient‐Specific Induced Pluripotent Stem Cells Reveals Multiple Roles for Visual System Homeobox 2

A case with de novo inv dup del(8p) associated with dextrocardia and corpus callosum agenesis

Identification of Three Novel FBN1 Mutations and Their Phenotypic Relationship of Marfan Syndrome

Rectal duplications accompanying rectovestibular fistula: Report of two cases

Supernumerary marker chromosome 15 in a male with azoospermia and open bite deformity

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