Detalhe da pesquisa
1.
Characterization of the prenatal renal phenotype associated with 17q12, HNF1B, microdeletions.
Prenat Diagn
; 44(2): 237-246, 2024 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-37632214
2.
Fractionated plasma N-glycan profiling of novel cohort of ATP6AP1-CDG subjects identifies phenotypic association.
J Inherit Metab Dis
; 46(2): 300-312, 2023 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36651831
3.
Aicardi-Goutières syndrome may present with positive newborn screen for X-linked adrenoleukodystrophy.
Am J Med Genet A
; 185(6): 1848-1853, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33683010
4.
Long-Term Follow-up of Untreated Adult Patients with Spondylothoracic Dysostosis (Jarcho-Levin Syndrome).
J Bone Joint Surg Am
; 106(6): 501-507, 2024 Mar 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-38127843
5.
Multiple de novo gene variations in a progeroid phenotype case report: haploinsufficiency mechanisms.
AME Case Rep
; 5: 40, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34805759
6.
Combined Genome Sequencing and RNA Analysis Reveals and Characterizes a Deep Intronic Variant in IGHMBP2 in a Patient With Spinal Muscular Atrophy With Respiratory Distress Type 1.
Pediatr Neurol
; 114: 16-20, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33189025