Detalhe da pesquisa
1.
The 8th International RASopathies Symposium: Expanding research and care practice through global collaboration and advocacy.
Am J Med Genet A
; 194(4): e63477, 2024 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-37969032
2.
Barriers to a successful healthcare transition for individuals with urea cycle disorders.
Mol Genet Metab
; 139(3): 107609, 2023 07.
Artigo
Inglês
| MEDLINE | ID: mdl-37245377
3.
The seventh international RASopathies symposium: Pathways to a cure-expanding knowledge, enhancing research, and therapeutic discovery.
Am J Med Genet A
; 188(6): 1915-1927, 2022 06.
Artigo
Inglês
| MEDLINE | ID: mdl-35266292
4.
De Novo Missense Variants in TRAF7 Cause Developmental Delay, Congenital Anomalies, and Dysmorphic Features.
Am J Hum Genet
; 103(1): 154-162, 2018 07 05.
Artigo
Inglês
| MEDLINE | ID: mdl-29961569
5.
Evaluation and classification of severity for 176 genes on an expanded carrier screening panel.
Prenat Diagn
; 40(10): 1246-1257, 2020 09.
Artigo
Inglês
| MEDLINE | ID: mdl-32474937
6.
Biallelic mutations in the ferredoxin reductase gene cause novel mitochondriopathy with optic atrophy.
Hum Mol Genet
; 26(24): 4937-4950, 2017 12 15.
Artigo
Inglês
| MEDLINE | ID: mdl-29040572
7.
Genetic counselors on the frontline of precision health.
Am J Med Genet C Semin Med Genet
; 178(1): 5-9, 2018 03.
Artigo
Inglês
| MEDLINE | ID: mdl-29582554
8.
Nonrecurrent 17p11.2p12 Rearrangement Events that Result in Two Concomitant Genomic Disorders: The PMP22-RAI1 Contiguous Gene Duplication Syndrome.
Am J Hum Genet
; 97(5): 691-707, 2015 Nov 05.
Artigo
Inglês
| MEDLINE | ID: mdl-26544804
9.
Reanalysis of Clinical Exome Sequencing Data.
N Engl J Med
; 380(25): 2478-2480, 2019 06 20.
Artigo
Inglês
| MEDLINE | ID: mdl-31216405
10.
Craniofacial Manifestations in Severe Nemaline Myopathy.
J Craniofac Surg
; 28(3): e258-e260, 2017 May.
Artigo
Inglês
| MEDLINE | ID: mdl-28468212
11.
Syndromic congenital myelofibrosis associated with a loss-of-function variant in RBSN.
Blood
; 132(6): 658-662, 2018 08 09.
Artigo
Inglês
| MEDLINE | ID: mdl-29784638
12.
Inherited dup(17)(p11.2p11.2): expanding the phenotype of the Potocki-Lupski syndrome.
Am J Med Genet A
; 164A(2): 500-4, 2014 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-24311450
13.
Exploring the utility of whole-exome sequencing as a diagnostic tool in a child with atypical episodic muscle weakness.
Clin Genet
; 83(5): 457-461, 2013 May.
Artigo
Inglês
| MEDLINE | ID: mdl-22901280
14.
Supporting Parents Throughout the Genetic Testing Process and New Diagnosis.
Pediatr Clin North Am
; 70(5): 917-928, 2023 10.
Artigo
Inglês
| MEDLINE | ID: mdl-37704350
15.
The cascade screening in heritable forms of pulmonary arterial hypertension.
Pulm Circ
; 13(3): e12259, 2023 Jul.
Artigo
Inglês
| MEDLINE | ID: mdl-37397234
16.
Loss-of-function mutations in Lysyl-tRNA synthetase cause various leukoencephalopathy phenotypes.
Neurol Genet
; 5(2): e565, 2019 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-31192300
17.
Adults with genetic syndromes and cardiovascular abnormalities: clinical history and management.
Genet Med
; 10(7): 469-94, 2008 Jul.
Artigo
Inglês
| MEDLINE | ID: mdl-18580689
18.
Clinical Metabolomics to Segregate Aromatic Amino Acid Decarboxylase Deficiency From Drug-Induced Metabolite Elevations.
Pediatr Neurol
; 75: 66-72, 2017 Oct.
Artigo
Inglês
| MEDLINE | ID: mdl-28823629
19.
Cardio-facio-cutaneous syndrome: clinical features, diagnosis, and management guidelines.
Pediatrics
; 134(4): e1149-62, 2014 Oct.
Artigo
Inglês
| MEDLINE | ID: mdl-25180280
20.
Chromosome 15q24 microdeletion syndrome.
Orphanet J Rare Dis
; 7: 2, 2012 Jan 04.
Artigo
Inglês
| MEDLINE | ID: mdl-22216833