Detalhe da pesquisa
1.
Three novel GJB2 (connexin 26) variants associated with autosomal dominant syndromic and nonsyndromic hearing loss.
Am J Med Genet A
; 176(4): 945-950, 2018 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-29575629
2.
Improvement in cystic fibrosis newborn screening program outcomes with genetic counseling via telemedicine.
Pediatr Pulmonol
; 58(12): 3478-3486, 2023 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-37712603
3.
Diagnostic capabilities of nanopore long-read sequencing in muscular dystrophy.
Ann Clin Transl Neurol
; 9(8): 1302-1309, 2022 08.
Artigo
Inglês
| MEDLINE | ID: mdl-35734998
4.
TFAP2A mutations result in branchio-oculo-facial syndrome.
Am J Hum Genet
; 82(5): 1171-7, 2008 May.
Artigo
Inglês
| MEDLINE | ID: mdl-18423521
5.
Genotype-phenotype analysis of the branchio-oculo-facial syndrome.
Am J Med Genet A
; 155A(1): 22-32, 2011 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-21204207
6.
Molecular analysis expands the spectrum of phenotypes associated with GLI3 mutations.
Hum Mutat
; 31(10): 1142-54, 2010 Oct.
Artigo
Inglês
| MEDLINE | ID: mdl-20672375
7.
A patient with the syndrome of megalencephaly, mega corpus callosum and complete lack of motor development.
Am J Med Genet A
; 146A(2): 204-7, 2008 Jan 15.
Artigo
Inglês
| MEDLINE | ID: mdl-18076119
8.
Exome sequencing for the diagnosis of 46,XY disorders of sex development.
J Clin Endocrinol Metab
; 100(2): E333-44, 2015 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-25383892
9.
Molecular cytogenetic characterization of two small supernumerary marker chromosomes derived from chromosome 19.
Am J Med Genet A
; 149A(2): 262-5, 2009 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-19133694
10.
High cognitive functioning and behavioral phenotype in Pallister-Killian syndrome.
Am J Med Genet A
; 140(18): 1950-4, 2006 Sep 15.
Artigo
Inglês
| MEDLINE | ID: mdl-16906561
11.
Facial dysmorphism and digit anomalies in three siblings with severe developmental delay.
Clin Dysmorphol
; 20(2): 92-94, 2011 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-21383553
12.
Fine mapping of chromosome 17 translocation breakpoints > or = 900 Kb upstream of SOX9 in acampomelic campomelic dysplasia and a mild, familial skeletal dysplasia.
Am J Hum Genet
; 76(4): 663-71, 2005 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-15717285
13.
Concurrence of fragile X syndrome and 47, XYY in an individual with a Prader-Willi-like phenotype.
Am J Med Genet A
; 116A(2): 176-8, 2003 Jan 15.
Artigo
Inglês
| MEDLINE | ID: mdl-12494438
14.
A molecular diagnosis of hyperparathyroidism-jaw tumor syndrome in an adolescent with recurrent kidney stones.
J Pediatr
; 145(4): 567, 2004 Oct.
Artigo
Inglês
| MEDLINE | ID: mdl-15480389