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TCIRG1 and SNX10 gene mutations in the patients with autosomal recessive osteopetrosis

Gene, 2019-06, Vol.702, p.83-88

2019

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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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Pyridoxine-Responsive Seizures in Infantile Hypophosphatasia and a Novel Homozygous Mutation in ALPL Gene

Journal of clinical research in pediatric endocrinology, 2016-09, Vol.8 (3), p.360-364

2016

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Interleukin-6 Gene Polymorphism in Febrile Seizures

Pediatric neurology, 2012, Vol.46 (1), p.36-38

2012

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Neonatal multiple sulfatase deficiency with a novel mutation and review of the literature

Turkish journal of pediatrics, 2014-07, Vol.56 (4), p.418-422

2014

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Bone mineral density in patients with mucopolysaccharidosis type III

Journal of bone and mineral metabolism, 2017-05, Vol.35 (3), p.338-343

2017

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A novel mutation in RNU4ATAC in a patient with microcephalic osteodysplastic primordial dwarfism type I

American journal of medical genetics. Part A, 2015-04, Vol.167A (4), p.919-921

2015

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Celiac disease in patients with Williams-Beuren syndrome

Turkish journal of pediatrics, 2015-11, Vol.57 (6), p.599-604

2015

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Poland Syndrome in Childhood: Evaluation of the Clinical Findings

The journal of pediatric research, 2016-04, Vol.3 (1), p.30-34

2016

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Clinical expression of familial Williams-Beuren syndrome in a Turkish family

Journal of pediatric endocrinology & metabolism : JPEM, 2014-01, Vol.27 (1-2), p.153

2014

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Poland Syndrome in Childhood: Evaluation of the Clinical Findings

The journal of pediatric research, 2016-03, Vol.3 (1), p.30

2016

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Possible autosomal recessive inheritance in an infant with acrofacial dysostosis similar to nager syndrome

American journal of medical genetics. Part A, 2013-09, Vol.161A (9), p.2311-2315

2013

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Bilateral congenital cataracts in an infant with Klinefelter syndrome

Turkish journal of pediatrics, 2014-09, Vol.56 (5), p.546-550

2014

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Associations between the clinical findings of cases having submicroscopic chromosomal imbalances at chromosomal breakpoints of apparently balanced structural rearrangements

Gene reports, 2017-06, Vol.7, p.50-58

2017

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The association of Klinefelter syndrome and multiple pterygium syndrome: an unusual presentation

Turkish journal of pediatrics, 2013-09, Vol.55 (5), p.559-563

2013

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Evaluation of the Response to the First Two Years of Growth Hormone Treatment in Kabuki Make-Up Syndrome

Journal of clinical research in pediatric endocrinology, 2017-06, Vol.9 (1), p.7

2017

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An Infantile Hypophosphatasia Patient with a Homozygous Mutation in the ALPS Gene

Journal of clinical research in pediatric endocrinology, 2015-09, Vol.7 (2)

2015

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Vertigo in Childhood: Evaluation of Clinical and Laboratory Findings

Türkiye klinikleri. Türkiye klinikeri journal of medical sciences. Tıp bilimleri dergisi, 2012-12, Vol.32 (6), p.1601-1606

2012

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Çocukluk Çaginda Vertigo: Klinik ve Laboratuvar Bulgularinin Degerlendirilmesi/Vertigo in Childhood: Evaluation of Clinical and Laboratory Findings

Türkiye klinikleri. Türkiye klinikeri journal of medical sciences. Tıp bilimleri dergisi, 2012-11, Vol.32 (6), p.1601

2012

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Chanarin-Dorfman syndrome: Genotype-Phenotype Correlation

European journal of medical genetics, 2015-04, Vol.58 (4), p.238-242

2015

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A familial interstitial 4q35 deletion with no discernible clinical effects

American journal of medical genetics. Part A, 2015-08, Vol.167A (8), p.1836-1841

2015

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Evaluation of the Response to the First Two Years of Growth Hormone Treatment in Kabuki Make-Up Syndrome

Journal of clinical research in pediatric endocrinology, 2017-06, Vol.9 (2), p.7

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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TCIRG1 and SNX10 gene mutations in the patients with autosomal recessive osteopetrosis

A novel AXIN2 gene mutation in sagittal synostosis

Pyridoxine-Responsive Seizures in Infantile Hypophosphatasia and a Novel Homozygous Mutation in ALPL Gene

Interleukin-6 Gene Polymorphism in Febrile Seizures

Neonatal multiple sulfatase deficiency with a novel mutation and review of the literature

Bone mineral density in patients with mucopolysaccharidosis type III

A novel mutation in RNU4ATAC in a patient with microcephalic osteodysplastic primordial dwarfism type I

Celiac disease in patients with Williams-Beuren syndrome

Poland Syndrome in Childhood: Evaluation of the Clinical Findings

Clinical expression of familial Williams-Beuren syndrome in a Turkish family

Poland Syndrome in Childhood: Evaluation of the Clinical Findings

Possible autosomal recessive inheritance in an infant with acrofacial dysostosis similar to nager syndrome

Bilateral congenital cataracts in an infant with Klinefelter syndrome

Associations between the clinical findings of cases having submicroscopic chromosomal imbalances at chromosomal breakpoints of apparently balanced structural rearrangements

The association of Klinefelter syndrome and multiple pterygium syndrome: an unusual presentation

Evaluation of the Response to the First Two Years of Growth Hormone Treatment in Kabuki Make-Up Syndrome

An Infantile Hypophosphatasia Patient with a Homozygous Mutation in the ALPS Gene

Vertigo in Childhood: Evaluation of Clinical and Laboratory Findings

Çocukluk Çaginda Vertigo: Klinik ve Laboratuvar Bulgularinin Degerlendirilmesi/Vertigo in Childhood: Evaluation of Clinical and Laboratory Findings

Chanarin-Dorfman syndrome: Genotype-Phenotype Correlation

A familial interstitial 4q35 deletion with no discernible clinical effects

Evaluation of the Response to the First Two Years of Growth Hormone Treatment in Kabuki Make-Up Syndrome

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

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