Detalhe da pesquisa
1.
Genotype-Phenotype Correlation in NF1: Evidence for a More Severe Phenotype Associated with Missense Mutations Affecting NF1 Codons 844-848.
Am J Hum Genet;
102(1): 69-87, 2018 01 04.
Artigo
em Inglês
| MEDLINE
| ID: mdl-29290338
2.
Prospective identification by neonatal screening of patients with guanidinoacetate methyltransferase deficiency.
Mol Genet Metab;
134(1-2): 60-64, 2021.
Artigo
em Inglês
| MEDLINE
| ID: mdl-34389248
3.
Deficient activity of alanyl-tRNA synthetase underlies an autosomal recessive syndrome of progressive microcephaly, hypomyelination, and epileptic encephalopathy.
Hum Mutat;
38(10): 1348-1354, 2017 10.
Artigo
em Inglês
| MEDLINE
| ID: mdl-28493438
4.
Clinical outcomes of children with abnormal newborn screening results for Krabbe disease in New York State.
Genet Med;
18(12): 1235-1243, 2016 12.
Artigo
em Inglês
| MEDLINE
| ID: mdl-27171547
5.
Newborn screening for Krabbe disease in New York State: the first eight years' experience.
Genet Med;
18(3): 239-48, 2016 Mar.
Artigo
em Inglês
| MEDLINE
| ID: mdl-26795590
6.
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
7.
Lack of genotype-phenotype correlations and outcome in MCAD deficiency diagnosed by newborn screening in New York State.
Mol Genet Metab;
99(3): 263-8, 2010 Mar.
Artigo
em Inglês
| MEDLINE
| ID: mdl-20036593
8.
Newborn screening for Krabbe disease: the New York State model.
Pediatr Neurol;
40(4): 245-52; discussion 253-5, 2009 Apr.
Artigo
em Inglês
| MEDLINE
| ID: mdl-19302934
9.
Ethnically diverse causes of Walker-Warburg syndrome (WWS): FCMD mutations are a more common cause of WWS outside of the Middle East.
Hum Mutat;
29(11): E231-41, 2008 Nov.
Artigo
em Inglês
| MEDLINE
| ID: mdl-18752264
10.
The genetic basis for bronchopulmonary dysplasia.
Front Biosci;
11: 1854-60, 2006 May 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-16368561
11.
Severe toxicity following induction chemotherapy for acute myelogenous leukemia in a patient with Werner's syndrome.
Leuk Lymphoma;
46(7): 1091-5, 2005 Jul.
Artigo
em Inglês
| MEDLINE
| ID: mdl-16019564
12.
Mosaic variegated aneuploidy with growth hormone deficiency and congenital heart defects.
Am J Med Genet;
110(3): 273-7, 2002 Jul 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-12116237
13.
Improved growth and nutrition status in children with methylmalonic or propionic acidemia fed an elemental medical food.
Mol Genet Metab;
80(1-2): 181-8, 2003.
Artigo
em Inglês
| MEDLINE
| ID: mdl-14567967
14.
Screening for GALC to make neonatal diagnosis and initial neonatal stem cell treatment with umbilical cord blood.
Pediatr Transplant;
7(2): 83-5, 2003 Apr.
Artigo
em Inglês
| MEDLINE
| ID: mdl-12654046