Detalhe da pesquisa
1.
Unique variants in CLCN3, encoding an endosomal anion/proton exchanger, underlie a spectrum of neurodevelopmental disorders.
Am J Hum Genet
; 108(8): 1450-1465, 2021 08 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-34186028
2.
Cerebrospinal fluid amino acids glycine, serine, and threonine in nonketotic hyperglycinemia.
J Inherit Metab Dis
; 45(4): 734-747, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35357708
3.
Short stature and growth hormone deficiency in a subset of patients with Potocki-Lupski syndrome: Expanding the phenotype of PTLS.
Am J Med Genet A
; 182(9): 2077-2084, 2020 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-32656927
4.
USP27X variants underlying X-linked intellectual disability disrupt protein function via distinct mechanisms.
Life Sci Alliance
; 7(3)2024 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-38182161
5.
PEBAT, an Intriguing Neurodegenerative Tubulinopathy Caused by a Novel Homozygous Variant in TBCD: A Case Series and Literature Review.
Pediatr Neurol
; 139: 59-64, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36527993
6.
Very-Long-Chain Acyl-CoA Dehydrogenase Deficiency: Family Impact and Perspectives.
Int J Neonatal Screen
; 9(4)2023 Oct 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-37873844
7.
Neurodevelopmental Disorders Associated with Abnormal Gene Dosage: Smith-Magenis and Potocki-Lupski Syndromes.
J Pediatr Genet
; 4(3): 159-67, 2015 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-27617127