Detalhe da pesquisa
1.
WRN Mutation Update: Mutation Spectrum, Patient Registries, and Translational Prospects.
Hum Mutat
; 38(1): 7-15, 2017 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27667302
2.
The phenotypic spectrum of Schaaf-Yang syndrome: 18 new affected individuals from 14 families.
Genet Med
; 19(1): 45-52, 2017 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27195816
3.
Multiple Café au Lait Spots in a Group of Fair-Skinned Children without Signs or Symptoms of Neurofibromatosis Type 1.
Pediatr Dermatol
; 33(5): 526-9, 2016 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-27469520
4.
Dystrophic epidermolysis bullosa associated with amniotic band syndrome.
Pediatr Dermatol
; 31(2): 212-6, 2014.
Artigo
em Inglês
| MEDLINE | ID: mdl-24383893
5.
Newborn screening for severe combined immunodeficiency in 11 screening programs in the United States.
JAMA
; 312(7): 729-38, 2014 Aug 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-25138334
6.
Massachusetts' Findings from Statewide Newborn Screening for Spinal Muscular Atrophy.
Int J Neonatal Screen
; 7(2)2021 May 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-34071063
7.
Ten Years of Newborn Screening for Severe Combined Immunodeficiency (SCID) in Massachusetts.
J Allergy Clin Immunol Pract
; 9(5): 2060-2067.e2, 2021 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33607339
8.
Mosaic tetraploidy and transient GFI1 mutation in a patient with severe chronic neutropenia.
Pediatr Blood Cancer
; 50(3): 630-2, 2008 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-17096407
9.
Townes-Brocks syndrome: twenty novel SALL1 mutations in sporadic and familial cases and refinement of the SALL1 hot spot region.
Hum Mutat
; 28(2): 204-5, 2007 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-17221874
10.
Deletion 22q11: spectrum of associated disorders.
Semin Pediatr Neurol
; 14(3): 136-9, 2007 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-17980310
11.
Noonan syndrome with loose anagen hair associated with trichorrhexis nodosa and trichoptilosis.
Clin Case Rep
; 5(7): 1152-1154, 2017 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-28680615
12.
De novo mutations in PURA are associated with hypotonia and developmental delay.
Cold Spring Harb Mol Case Stud
; 1(1): a000356, 2015 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-27148565
13.
BCOR analysis in patients with OFCD and Lenz microphthalmia syndromes, mental retardation with ocular anomalies, and cardiac laterality defects.
Eur J Hum Genet
; 17(10): 1325-35, 2009 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-19367324
14.
Gene therapy improves immune function in preadolescents with X-linked severe combined immunodeficiency.
Blood
; 110(1): 67-73, 2007 Jul 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-17369490
15.
Familial immunodeficiency with cutaneous vasculitis, myoclonus, and cognitive impairment.
Am J Med Genet A
; 125A(2): 145-51, 2004 Mar 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-14981714