Detalhe da pesquisa
1.
Insights into the perinatal phenotype of Kabuki syndrome in infants identified by genome-wide sequencing.
Am J Med Genet A
; 191(4): 930-940, 2023 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-36651673
2.
Hypertrophic cardiomyopathy: a new mutation illustrates the need for family-centered care.
Pediatr Cardiol
; 35(8): 1474-7, 2014 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-25182012
3.
Views of nonmedical, health system professionals regarding the return of whole genome sequencing incidental findings.
WMJ
; 113(5): 179-84, 2014 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-25739160
4.
Multi-center implementation of rapid whole genome sequencing provides additional evidence of its utility in the pediatric inpatient setting.
Front Pediatr
; 12: 1349519, 2024.
Artigo
em Inglês
| MEDLINE | ID: mdl-38440187
5.
Pancreatic insufficiency in Toriello-Carey syndrome: report of a second patient.
Am J Med Genet A
; 158A(5): 1208-11, 2012 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-22496049
6.
Making a definitive diagnosis: successful clinical application of whole exome sequencing in a child with intractable inflammatory bowel disease.
Genet Med
; 13(3): 255-62, 2011 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-21173700
7.
In the absence of evidentiary harm, existing societal norms regarding parental authority should prevail.
Am J Bioeth
; 14(3): 24-6, 2014.
Artigo
em Inglês
| MEDLINE | ID: mdl-24592835
8.
Successful Application of Whole Genome Sequencing in a Medical Genetics Clinic.
J Pediatr Genet
; 6(2): 61-76, 2017 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-28496993
9.
Characterization of a New DGKE Intronic Mutation in Genetically Unsolved Cases of Familial Atypical Hemolytic Uremic Syndrome.
Clin J Am Soc Nephrol
; 10(6): 1011-9, 2015 Jun 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-25854283
10.
Genomics in clinical practice: lessons from the front lines.
Sci Transl Med
; 5(194): 194cm5, 2013 Jul 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-23863829
11.
Altered TGFbeta signaling and cardiovascular manifestations in patients with autosomal recessive cutis laxa type I caused by fibulin-4 deficiency.
Eur J Hum Genet
; 18(8): 895-901, 2010 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-20389311
12.
A rare presentation of neonatal stridor.
Clin Pediatr (Phila)
; 51(3): 294-6, 2012 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-21339253