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1.
Biallelic frameshift variants in PHLDB1 cause mild-type osteogenesis imperfecta with regressive spondylometaphyseal changes.
J Med Genet
; 60(8): 819-826, 2023 08.
Artículo
en Inglés
| MEDLINE | ID: mdl-36543534
2.
Natural history of clinical features in two brothers with acromesomelic dysplasia related to PRKG2.
Clin Genet
; 103(5): 574-579, 2023 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-36504352
3.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-36097644
4.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-33877690
5.
A Large Turkish Cohort of Williams Syndrome: The Evaluation of Facial, Cardiovascular, and Neuropsychiatric Features.
Turk Arch Pediatr
; 58(2): 182-188, 2023 Mar.
Artículo
en Inglés
| MEDLINE | ID: mdl-36856356
6.
Natural history and genetic spectrum of the Turkish metaphyseal dysplasia cohort, including rare types caused by biallelic COL10A1, COL2A1, and LBR variants.
Bone
; 167: 116614, 2023 02.
Artículo
en Inglés
| MEDLINE | ID: mdl-36400164
7.
Investigation of 11p15.5 Methylation Defects Associated with Beckwith-Wiedemann Spectrum and Embryonic Tumor Risk in Lateralized Overgrowth Patients.
Cancers (Basel)
; 15(6)2023 Mar 21.
Artículo
en Inglés
| MEDLINE | ID: mdl-36980758
8.
Investigation of (Epi)genetic causes in syndromic short children born small for gestational age.
Eur J Med Genet
; 66(11): 104854, 2023 Nov.
Artículo
en Inglés
| MEDLINE | ID: mdl-37758162
9.
Natural history of facial and skeletal features from neonatal period to adulthood in a 3M syndrome cohort with biallelic CUL7 or OBSL1 variants.
Eur J Med Genet
; 64(12): 104346, 2021 Dec.
Artículo
en Inglés
| MEDLINE | ID: mdl-34597859
10.
Two novel variants and follow-up findings in four children with Bloom syndrome from two families.
Clin Dysmorphol
; 31(1): 31-35, 2022 Jan 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-34538859
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