Detalhe da pesquisa
1.
Diagnosing newborns with suspected mitochondrial disorders: an economic evaluation comparing early exome sequencing to current typical care.
Genet Med
; 23(10): 1854-1863, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34040192
2.
Long-term outcomes of patients with mucopolysaccharidosis VI treated with galsulfase enzyme replacement therapy since infancy.
Mol Genet Metab
; 133(1): 100-108, 2021 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33775523
3.
Androgenetic chimerism as an etiology for Beckwith-Wiedemann syndrome: diagnosis and management.
Genet Med
; 21(11): 2644-2649, 2019 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-31147633
4.
Correction: Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype-phenotype correlation.
Genet Med
; 21(3): 764-765, 2019 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30275510
5.
Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype-phenotype correlation.
Genet Med
; 21(4): 867-876, 2019 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30190611
6.
Phenotype of 7q11.23 duplication: A family clinical series.
Am J Med Genet A
; 173(1): 114-119, 2017 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-27615053
7.
Generalized Arterial Calcification in a Recipient Twin: Discordant Fetal Hemodynamics Result in Differing Phenotypes in Monozygotic Twins with an ABCC6 Mutation.
Fetal Diagn Ther
; 41(3): 234-236, 2017.
Artigo
em Inglês
| MEDLINE | ID: mdl-26982014
8.
High Incidence of Noonan Syndrome Features Including Short Stature and Pulmonic Stenosis in Patients carrying NF1 Missense Mutations Affecting p.Arg1809: Genotype-Phenotype Correlation.
Hum Mutat
; 36(11): 1052-63, 2015 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-26178382
9.
Hepatoblastoma in a 15-month-old female with trisomy 13.
Am J Med Genet A
; 164A(2): 472-5, 2014 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-24311532
10.
Galsulfase (Naglazyme®) therapy in infants with mucopolysaccharidosis VI.
J Inherit Metab Dis
; 37(2): 277-87, 2014 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-24108527
11.
Automated monitoring to detect H1N1 symptoms among urban, Medicaid-eligible, pregnant women: a community-partnered randomized controlled trial.
J Community Health
; 39(1): 159-66, 2014 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-23990336
12.
8-Month-Old Boy with Ataxia after Ingestion of Cow's Milk.
Clin Chem
; 64(3): 611-613, 2018 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-29491000
13.
Chimerism in monochorionic dizygotic twins: case study and review.
Am J Med Genet A
; 161A(7): 1817-24, 2013 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-23703979
14.
Investigation of NRXN1 deletions: clinical and molecular characterization.
Am J Med Genet A
; 161A(4): 717-31, 2013 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-23495017
15.
Microdeletion del(22)(q12.2) encompassing the facial development-associated gene, MN1 (meningioma 1) in a child with Pierre-Robin sequence (including cleft palate) and neurofibromatosis 2 (NF2): a case report and review of the literature.
BMC Med Genet
; 13: 19, 2012 Mar 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-22436304
16.
Chorionic villus sampling fails to confirm mosaic trisomy 21 fetus after positive cell-free DNA.
Prenat Diagn
; 37(3): 296-298, 2017 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-28004393
17.
Prevalence of noncardiac structural anomalies in twin-twin transfusion syndrome.
J Ultrasound Med
; 31(4): 555-60, 2012 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-22441911
18.
Fatal infantile lactic acidosis and a novel homozygous mutation in the SUCLG1 gene: a mitochondrial DNA depletion disorder.
Mol Genet Metab
; 102(2): 149-52, 2011 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-21093335
19.
Hypoplastic left heart syndrome in patients with Kabuki syndrome.
Pediatr Cardiol
; 31(1): 138-41, 2010 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-19967352
20.
Assessment of Facial Morphologic Features in Patients With Congenital Adrenal Hyperplasia Using Deep Learning.
JAMA Netw Open
; 3(11): e2022199, 2020 11 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33206189