Detalhe da pesquisa
1.
Phenotypic and molecular characterization of five patients with PIK3CA-related overgrowth spectrum (PROS).
Am J Med Genet A
; 188(6): 1792-1800, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-35238469
2.
Novel RETREG1 (FAM134B) founder allele is linked to HSAN2B and renal disease in a Turkish family.
Am J Med Genet A
; 188(7): 2153-2161, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35332675
3.
Determination of miR-373 and miR-204 levels in neuronal exosomes in Alzheimer's disease.
Turk J Med Sci
; 52(5): 1458-1467, 2022 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-36422510
4.
Skeletal and molecular findings in 51 Cleidocranial dysplasia patients from Turkey.
Am J Med Genet A
; 185(8): 2488-2495, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-33987976
5.
Extending Phenotypic Spectrum of 17q22 Microdeletion: Growth Hormone Deficiency.
Fetal Pediatr Pathol
; 40(5): 486-492, 2021 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-31997693
6.
Autosomal Recessive Oculodentodigital Dysplasia: A Case Report and Review of the Literature.
Cytogenet Genome Res
; 154(4): 181-186, 2018.
Artigo
em Inglês
| MEDLINE | ID: mdl-29902798
7.
Dual diagnosis of Ochoa syndrome and Niemann-Pick disease type B in a consanguineous family.
J Pediatr Endocrinol Metab
; 34(5): 653-657, 2021 May 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-33647194
8.
Two siblings with GAPO syndrome: a novel missense variant in ANTXR1.
Clin Dysmorphol
; 31(4): 191-195, 2022 10 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36094357