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Genetic analysis of Mayer-Rokitansky-Kuster-Hauser syndrome in a large cohort of families

Fertility and sterility, 2017-07, Vol.108 (1), p.145-151.e2

2017

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A novel AXIN2 gene mutation in sagittal synostosis

American journal of medical genetics. Part A, 2018-09, Vol.176 (9), p.1976-1980

2018

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Copy number variation and regions of homozygosity analysis in patients with MÜLLERIAN aplasia

Molecular cytogenetics, 2018-02, Vol.11 (1), p.13-13, Article 13

2018

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Coronal craniosynostosis due to TCF12 mutations in patients from Turkey

American journal of medical genetics. Part A, 2019-11, Vol.179 (11), p.2241-2245

2019

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Novel Gene Variants Associated with Primary Ciliary Dyskinesia

Indian journal of pediatrics, 2022-07, Vol.89 (7), p.682-691

2022

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Clinical and genetic findings of two cases with Apert syndrome

Boletin medico del Hospital Infantil de Mexico, 2019-01, Vol.76 (1), p.44-48

2019

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Mutational spectrum of MYO15A: the large N-terminal extension of myosin XVA is required for hearing

Human mutation, 2007-10, Vol.28 (10), p.1014-1019

2007

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Clinicogenetic Study of Turkish Patients With Syndromic Craniosynostosis and Literature Review

Pediatric neurology, 2014-05, Vol.50 (5), p.482-490

2014

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Recent Advances in Craniosynostosis

Pediatric neurology, 2019-10, Vol.99, p.7-15

2019

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Normal sweat chloride test does not rule out cystic fibrosis

Turkish journal of pediatrics, 2017-01, Vol.59 (1), p.68-70

2017

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Perinatal Diagnostic Approach to Fetal Skeletal Dysplasias: Six Years Experience of a Tertiary Center

Fetal and pediatric pathology, 2015-09, Vol.34 (5), p.287-306

2015

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Mitochondrial ATPase subunit 6 and cytochrome B gene variations in obese Turkish children

Journal of clinical research in pediatric endocrinology, 2014-12, Vol.6 (4), p.209-215

2014

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Analysis of TPO gene in Turkish children with iodide organification defect: identification of a novel mutation

Endocrine, 2010-02, Vol.37 (1), p.124-128

2010

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Identification of novel and rare mutations in California Hispanic and African American cystic fibrosis patients

Human mutation, 2004-10, Vol.24 (4), p.353-353

2004

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Simultaneous suppression of epidermal growth factor receptor and c-erbB-2 reverses aneuploidy and malignant phenotype of a human ovarian carcinoma cell line

Cancer research (Chicago, Ill.), 2004-02, Vol.64 (3), p.789-794

2004

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Mutation spectrum of the CFTR gene in Taiwanese patients with congenital bilateral absence of the vas deferens

Human reproduction (Oxford), 2005-09, Vol.20 (9), p.2470-2475

2005

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First prenatal exclusion of cystic fibrosis in East Asia

Pediatrics international, 2007-10, Vol.49 (5), p.686-687

2007

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Clinical and genetic findings of two cases with Apert syndrome

Boletín Médico del Hospital Infantil de México (English Edition), 2023-11, Vol.76 (1)

2023

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Final Diagnosis in Children with Subclinical Hypothyroidism and Mutation Analysis of the Thyroid Peroxidase Gene (TPO)

Journal of Pediatric Endocrinology and Metabolism, 2009-09, Vol.22 (9), p.845-852

2009

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Detection of CFTR mutations using temporal temperature gradient gel electrophoresis

Electrophoresis, 2004-08, Vol.25 (15), p.2593-2601

2004

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The necessity of complete CFTR mutational analysis of an infertile couple before in vitro fertilization

Fertility and sterility, 2004-10, Vol.82 (4), p.947-949

2004

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Hallazgos clínicos y genéticos de dos casos con síndrome de Apert

Boletín médico del Hospital Infantil de México (Spanish edition), 2019-07, Vol.76 (1)

2019

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Genetic Analysis of Mayer-Rokitansky-Kuster-Hauser Syndrome (MRKH) Through Ascertainment of a Large Cohort of Families

Fertility and sterility, 2017-06, Vol.108 (1), p.145-151.e2

2017

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Abstract 694: Characterization of a novel monoclonal antibody to Glia maturation factor-beta showing significant clinical utility in the identification of breast carcinoma

Cancer research (Chicago, Ill.), 2012-04, Vol.72 (8_Supplement), p.694-694

2012

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Two novel null mutations in a Taiwanese cystic fibrosis patient and a survey of East Asian CFTR mutations

American journal of medical genetics, 2003-07, Vol.120A (2), p.296-298

2003

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Genetic analysis of Mayer-Rokitansky-Kuster-Hauser syndrome in a large cohort of families

A novel AXIN2 gene mutation in sagittal synostosis

Copy number variation and regions of homozygosity analysis in patients with MÜLLERIAN aplasia

Coronal craniosynostosis due to TCF12 mutations in patients from Turkey

Novel Gene Variants Associated with Primary Ciliary Dyskinesia

Clinical and genetic findings of two cases with Apert syndrome

Mutational spectrum of MYO15A: the large N-terminal extension of myosin XVA is required for hearing

Clinicogenetic Study of Turkish Patients With Syndromic Craniosynostosis and Literature Review

Recent Advances in Craniosynostosis

Normal sweat chloride test does not rule out cystic fibrosis

Perinatal Diagnostic Approach to Fetal Skeletal Dysplasias: Six Years Experience of a Tertiary Center

Mitochondrial ATPase subunit 6 and cytochrome B gene variations in obese Turkish children

Analysis of TPO gene in Turkish children with iodide organification defect: identification of a novel mutation

Identification of novel and rare mutations in California Hispanic and African American cystic fibrosis patients

Simultaneous suppression of epidermal growth factor receptor and c-erbB-2 reverses aneuploidy and malignant phenotype of a human ovarian carcinoma cell line

Mutation spectrum of the CFTR gene in Taiwanese patients with congenital bilateral absence of the vas deferens

First prenatal exclusion of cystic fibrosis in East Asia

Clinical and genetic findings of two cases with Apert syndrome

Final Diagnosis in Children with Subclinical Hypothyroidism and Mutation Analysis of the Thyroid Peroxidase Gene (TPO)

Detection of CFTR mutations using temporal temperature gradient gel electrophoresis

The necessity of complete CFTR mutational analysis of an infertile couple before in vitro fertilization

Hallazgos clínicos y genéticos de dos casos con síndrome de Apert

Genetic Analysis of Mayer-Rokitansky-Kuster-Hauser Syndrome (MRKH) Through Ascertainment of a Large Cohort of Families

Abstract 694: Characterization of a novel monoclonal antibody to Glia maturation factor-beta showing significant clinical utility in the identification of breast carcinoma

Two novel null mutations in a Taiwanese cystic fibrosis patient and a survey of East Asian CFTR mutations

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