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1.
Variant characterisation and clinical profile in a large cohort of patients with Ellis-van Creveld syndrome and a family with Weyers acrofacial dysostosis.
J Med Genet
; 2024 Mar 26.
Article
in English
| MEDLINE | ID: mdl-38531627
2.
Early Diagnostic Signs and the Natural History of Typical Findings in Cohen Syndrome.
J Pediatr
; 252: 93-100, 2023 01.
Article
in English
| MEDLINE | ID: mdl-36067876
3.
Clinical features of generalized lipodystrophy in Turkey: A cohort analysis.
Diabetes Obes Metab
; 25(7): 1950-1963, 2023 07.
Article
in English
| MEDLINE | ID: mdl-36946378
4.
The Genomics of Arthrogryposis, a Complex Trait: Candidate Genes and Further Evidence for Oligogenic Inheritance.
Am J Hum Genet
; 105(1): 132-150, 2019 07 03.
Article
in English
| MEDLINE | ID: mdl-31230720
5.
Investigation of genetic and phenotypic heterogeneity in 37 Turkish patients with Kabuki and Kabuki-like phenotype.
Am J Med Genet A
; 188(10): 2976-2987, 2022 10.
Article
in English
| MEDLINE | ID: mdl-36097644
6.
Long-term follow-up findings in a Turkish girl with osteogenesis imperfecta type XX caused by a homozygous MESD variant.
Am J Med Genet A
; 188(5): 1639-1646, 2022 05.
Article
in English
| MEDLINE | ID: mdl-35092157
7.
Neurofibromatosis type 1: Expanded variant spectrum with multiplex ligation-dependent probe amplification and genotype-phenotype correlation in 138 Turkish patients.
Ann Hum Genet
; 85(5): 155-165, 2021 09.
Article
in English
| MEDLINE | ID: mdl-33877690
8.
Investigation of (epi)genotype causes and follow-up manifestations in the patients with classical and atypical phenotype of Beckwith-Wiedemann spectrum.
Am J Med Genet A
; 185(6): 1721-1731, 2021 06.
Article
in English
| MEDLINE | ID: mdl-33704912
9.
Skeletal and molecular findings in 51 Cleidocranial dysplasia patients from Turkey.
Am J Med Genet A
; 185(8): 2488-2495, 2021 08.
Article
in English
| MEDLINE | ID: mdl-33987976
10.
Bi-allelic GAD1 variants cause a neonatal onset syndromic developmental and epileptic encephalopathy.
Brain
; 143(5): 1447-1461, 2020 05 01.
Article
in English
| MEDLINE | ID: mdl-32282878
11.
Combined in vitro and in silico analyses of missense mutations in GNPTAB provide new insights into the molecular bases of mucolipidosis II and III alpha/beta.
Hum Mutat
; 41(1): 133-139, 2020 01.
Article
in English
| MEDLINE | ID: mdl-31579991
12.
The lysosomal storage disorders mucolipidosis type II, type III alpha/beta, and type III gamma: Update on GNPTAB and GNPTG mutations.
Hum Mutat
; 40(7): 842-864, 2019 07.
Article
in English
| MEDLINE | ID: mdl-30882951
13.
SOPH syndrome in three affected individuals showing similarities with progeroid cutis laxa conditions in early infancy.
J Hum Genet
; 64(7): 609-616, 2019 Jul.
Article
in English
| MEDLINE | ID: mdl-31015584
14.
Two novel mutations in XYLT2 cause spondyloocular syndrome.
Am J Med Genet A
; 173(12): 3195-3200, 2017 Dec.
Article
in English
| MEDLINE | ID: mdl-28884924
15.
The Clinical and Molecular Spectrum of Trichorhinophalangeal Syndrome Types I and II in a Turkish Cohort Involving 22 Patients.
Turk Arch Pediatr
; 58(1): 98-104, 2023 Jan.
Article
in English
| MEDLINE | ID: mdl-36598218
16.
Phenotypic and Molecular Spectrum of a Turkish Cohort with Hereditary Multiple Osteochondromas.
Turk Arch Pediatr
; 58(4): 376-381, 2023 Jul.
Article
in English
| MEDLINE | ID: mdl-37317574
17.
Osteogenesis imperfecta in 140 Turkish families: Molecular spectrum and, comparison of long-term clinical outcome of those with COL1A1/A2 and biallelic variants.
Bone
; 155: 116293, 2022 02.
Article
in English
| MEDLINE | ID: mdl-34902613
18.
A rare intrauterine onset growth retardation syndrome caused by mosaic 19p13.3 microduplication: evaluation of GH/IGF- 1 axis and GH therapy response.
Turk J Pediatr
; 63(1): 174-180, 2021.
Article
in English
| MEDLINE | ID: mdl-33686842
19.
Effects of Long-Term Pamidronate Treatment on Bone Density and Fracture Rate in 65 Osteogenesis Imperfecta Patients.
Turk Arch Pediatr
; 56(5): 474-478, 2021 Sep.
Article
in English
| MEDLINE | ID: mdl-35110117
20.
Neurofibromatosis Type 1 in Children: A Single-Center Experience.
Turk Arch Pediatr
; 56(4): 339-343, 2021 Jul.
Article
in English
| MEDLINE | ID: mdl-35005728