Detalhe da pesquisa
1.
Novel dominant and recessive variants in human ROBO1 cause distinct neurodevelopmental defects through different mechanisms.
Hum Mol Genet
; 31(16): 2751-2765, 2022 08 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-35348658
2.
High prevalence of multilocus pathogenic variation in neurodevelopmental disorders in the Turkish population.
Am J Hum Genet
; 108(10): 1981-2005, 2021 10 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-34582790
3.
Brain monoamine vesicular transport disease caused by homozygous SLC18A2 variants: A study in 42 affected individuals.
Genet Med
; 25(1): 90-102, 2023 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36318270
4.
A biallelic frameshift indel in PPP1R35 as a cause of primary microcephaly.
Am J Med Genet A
; 191(3): 794-804, 2023 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36598158
5.
Biallelic pathogenic variants in roundabout guidance receptor 1 associate with syndromic congenital anomalies of the kidney and urinary tract.
Kidney Int
; 101(5): 1039-1053, 2022 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35227688
6.
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
7.
Risk of sudden cardiac death in EXOSC5-related disease.
Am J Med Genet A
; 185(8): 2532-2540, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-34089229
8.
Phenotype of CM-AVM2 caused by variants in EPHB4: how much overlap with hereditary hemorrhagic telangiectasia (HHT)?
Genet Med
; 21(9): 2007-2014, 2019 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-30760892
9.
Genome sequencing reveals a deep intronic splicing ACVRL1 mutation hotspot in Hereditary Haemorrhagic Telangiectasia.
J Med Genet
; 55(12): 824-830, 2018 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-30244195
10.
Developmental genomics of limb malformations: Allelic series in association with gene dosage effects contribute to the clinical variability.
HGG Adv
; 3(4): 100132, 2022 Oct 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-36035248