Detalles de la búsqueda
1.
An investigation of the etiology and follow-up findings in 35 children with overgrowth syndromes, including biallelic SUZ12 variant.
Am J Med Genet A
; 191(6): 1530-1545, 2023 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-36919607
2.
Long-Term Follow-Up Outcomes of 19 Patients with Osteogenesis Imperfecta Type XI and Bruck Syndrome Type I Caused by FKBP10 Variants.
Calcif Tissue Int
; 109(6): 633-644, 2021 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-34173012
3.
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
4.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-36598218
5.
Congenital Heart Defects and Outcome in a Large Cohort of Down Syndrome: A Single-Center Experience from Turkey.
Turk Arch Pediatr
; 58(5): 473-479, 2023 Sep.
Artículo
en Inglés
| MEDLINE | ID: mdl-37534463
Resultados
1 -
5
de 5
1
Próxima >
>>