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A novel GRK2 variant in a patient with Jeune asphyxiating thoracic dysplasia accompanied by Morgagni hernia

American journal of medical genetics. Part A, 2024-09, Vol.194 (9), p.e63629-n/a

2024

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A novel biallelic CRIPT variant in a patient with short stature, microcephaly, and distinctive facial features

American journal of medical genetics. Part A, 2023-04, Vol.191 (4), p.1119-1127

2023

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Further defining the molecular spectrum and long‐term follow‐up of 17 patients with Dyggve–Melchior–Clausen and Smith–McCort dysplasia type 2

American journal of medical genetics. Part A, 2024-10, Vol.194 (10), p.e63785-n/a

2024

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Diagnostic distribution and postnatal evaluation of prenatally detected short femur: A single center experience

American journal of medical genetics. Part A, 2022-08, Vol.188 (8), p.2367-2375

2022

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A very rare case of a newborn with tetrasomy 9p and literature review

The Turkish journal of pediatrics, 2022-01, Vol.64 (1), p.171-178

2022

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Biallelic loss‐of‐function variants in EXOC6B are associated with impaired primary ciliogenesis and cause spondylo‐epi‐metaphyseal dysplasia with joint laxity type 3

Human mutation, 2022-12, Vol.43 (12), p.2116-2129

2022

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Cockayne syndrome type 3 with dystonia‐ataxia and clicking blinks

Movement disorders clinical practice (Hoboken, N.J.), 2023-08, Vol.10 (S3), p.S48-S50

2023

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Further expanding the mutational spectrum and investigation of genotype–phenotype correlation in 3M syndrome

American journal of medical genetics. Part A, 2019-07, Vol.179 (7), p.1157-1172

2019

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A mutation screen in patients with Kabuki syndrome

Human genetics, 2011-12, Vol.130 (6), p.715-724

2011

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Further expansion of the mutational spectrum of spondylo-meta-epiphyseal dysplasia with abnormal calcification

Journal of human genetics, 2018-09, Vol.63 (9), p.1003-1007

2018

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A Life-Threatening Complication in a Patient with Ehlers-Danlos Syndrome Musculocontractural Type

The journal of pediatric research, 2022-09, Vol.9 (3), p.297-301

2022

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Mutations in the TGFβ Binding-Protein-Like Domain 5 of FBN1 Are Responsible for Acromicric and Geleophysic Dysplasias

American journal of human genetics, 2011-07, Vol.89 (1), p.7-14

2011

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A Long-Term Follow-Up of a Patient with a Novel PORCN Variant and Additional Clinical Features

Molecular syndromology, 2024-06, p.217-224

2024

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Positive effects of an angiotensin II type 1 receptor antagonist in Camurati-Engelmann disease: A single case observation

American journal of medical genetics. Part A, 2014-10, Vol.164A (10), p.2667-2671

2014

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Main Physical Features, Echocardiographic and Renal Ultrasonographic Findings of Turner Syndrome in 107 Pediatric Patients

Molecular syndromology, 2021-10, Vol.12 (6), p.335-341

2021

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Further expanding the mutational spectrum of brain abnormalities, neurodegeneration, and dysosteosclerosis: A rare disorder with neurologic regression and skeletal features

American journal of medical genetics. Part A, 2021-06, Vol.185 (6), p.1888-1896

2021

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Editorial: Advancing our understanding of the genetic and functional basis of skeletal dysplasia

Frontiers in genetics, 2023-01, Vol.14, p.1139228-1139228

2023

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AP-1-dependent fibrosis: Exploring its potential role in the pathogenesis of placental transmogrification of the lung (PTL) via tissue-level transcriptome analysis

Pathology, research and practice, 2024-06, Vol.258, p.155334-155334, Article 155334

2024

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Cathepsin K analysis in a pycnodysostosis cohort: demographic, genotypic and phenotypic features

Orphanet journal of rare diseases, 2014-04, Vol.9 (1), p.60-60, Article 60

2014

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Ex vivo disease modelling of Rett syndrome: the transcriptomic and metabolomic implications of direct neuronal conversion

Molecular biology reports, 2024-12, Vol.51 (1), p.979, Article 979

2024

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A rare cause of syndromic short stature: 3M syndrome in three families

American journal of medical genetics. Part A, 2021-02, Vol.185 (2), p.461-468

2021

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Homozygosity for a novel truncating mutation confirms TBX15 deficiency as the cause of Cousin syndrome

American journal of medical genetics. Part A, 2013-12, Vol.161A (12), p.3161-3165

2013

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Celiac disease in Williams-Beuren syndrome

Turkish journal of pediatrics, 2014-03, Vol.56 (2), p.154-159

2014

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Prenatal and Postnatal Follow-up in Trisomies 13 and 18: A 20-Year Experience in a Tertiary Center

American journal of perinatology, 2018-04, Vol.35 (5), p.427-433

2018

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A novel GRK2 variant in a patient with Jeune asphyxiating thoracic dysplasia accompanied by Morgagni hernia

A novel biallelic CRIPT variant in a patient with short stature, microcephaly, and distinctive facial features

Further defining the molecular spectrum and long‐term follow‐up of 17 patients with Dyggve–Melchior–Clausen and Smith–McCort dysplasia type 2

Diagnostic distribution and postnatal evaluation of prenatally detected short femur: A single center experience

A very rare case of a newborn with tetrasomy 9p and literature review

Biallelic loss‐of‐function variants in EXOC6B are associated with impaired primary ciliogenesis and cause spondylo‐epi‐metaphyseal dysplasia with joint laxity type 3

Cockayne syndrome type 3 with dystonia‐ataxia and clicking blinks

Further expanding the mutational spectrum and investigation of genotype–phenotype correlation in 3M syndrome

A mutation screen in patients with Kabuki syndrome

Further expansion of the mutational spectrum of spondylo-meta-epiphyseal dysplasia with abnormal calcification

A Life-Threatening Complication in a Patient with Ehlers-Danlos Syndrome Musculocontractural Type

Mutations in the TGFβ Binding-Protein-Like Domain 5 of FBN1 Are Responsible for Acromicric and Geleophysic Dysplasias

A Long-Term Follow-Up of a Patient with a Novel PORCN Variant and Additional Clinical Features

Positive effects of an angiotensin II type 1 receptor antagonist in Camurati-Engelmann disease: A single case observation

Main Physical Features, Echocardiographic and Renal Ultrasonographic Findings of Turner Syndrome in 107 Pediatric Patients

Further expanding the mutational spectrum of brain abnormalities, neurodegeneration, and dysosteosclerosis: A rare disorder with neurologic regression and skeletal features

Editorial: Advancing our understanding of the genetic and functional basis of skeletal dysplasia

AP-1-dependent fibrosis: Exploring its potential role in the pathogenesis of placental transmogrification of the lung (PTL) via tissue-level transcriptome analysis

Cathepsin K analysis in a pycnodysostosis cohort: demographic, genotypic and phenotypic features

Ex vivo disease modelling of Rett syndrome: the transcriptomic and metabolomic implications of direct neuronal conversion

A rare cause of syndromic short stature: 3M syndrome in three families

Homozygosity for a novel truncating mutation confirms TBX15 deficiency as the cause of Cousin syndrome

Celiac disease in Williams-Beuren syndrome

Exome sequencing unravels unexpected differential diagnoses in individuals with the tentative diagnosis of Coffin–Siris and Nicolaides–Baraitser syndromes

Prenatal and Postnatal Follow-up in Trisomies 13 and 18: A 20-Year Experience in a Tertiary Center

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