Detalhe da pesquisa
1.
Microcephaly, intractable seizures and developmental delay caused by biallelic variants in TBCD: further delineation of a new chaperone-mediated tubulinopathy.
Clin Genet
; 91(5): 725-738, 2017 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-27807845
2.
Identification of the gene causing mucolipidosis type IV.
Nat Genet
; 26(1): 118-23, 2000 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-10973263
3.
Identification of the gene that, when mutated, causes the human obesity syndrome BBS4.
Nat Genet
; 28(2): 188-91, 2001 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-11381270
4.
Origin and spread of a common deletion causing mucolipidosis type II: insights from patterns of haplotypic diversity.
Clin Genet
; 80(3): 273-80, 2011 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-20880125
5.
Phenotypic variability in 49 cases of ESCO2 mutations, including novel missense and codon deletion in the acetyltransferase domain, correlates with ESCO2 expression and establishes the clinical criteria for Roberts syndrome.
J Med Genet
; 47(1): 30-7, 2010 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-19574259
6.
Mutations in the mitochondrial glutamate carrier SLC25A22 in neonatal epileptic encephalopathy with suppression bursts.
Clin Genet
; 76(2): 188-94, 2009 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-19780765
7.
Novel WWOX deleterious variants cause early infantile epileptic encephalopathy, severe developmental delay and dysmorphism among Yemenite Jews.
Eur J Paediatr Neurol
; 23(3): 418-426, 2019 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-30853297
8.
Home-based infusion therapy for patients with Fabry disease.
Br J Nurs
; 17(10): 653-7, 2008.
Artigo
em Inglês
| MEDLINE | ID: mdl-18563007
9.
Molecular basis of variant pseudo-hurler polydystrophy (mucolipidosis IIIC)
J Clin Invest
; 105(5): 673-81, 2000 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-10712439
10.
Mucolipidosis type IV: novel MCOLN1 mutations in Jewish and non-Jewish patients and the frequency of the disease in the Ashkenazi Jewish population.
Hum Mutat
; 17(5): 397-402, 2001 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-11317355
11.
Mucolipidosis type IV: the origin of the disease in the Ashkenazi Jewish population.
Eur J Hum Genet
; 7(4): 496-8, 1999.
Artigo
em Inglês
| MEDLINE | ID: mdl-10352940
12.
Giant congenital aortic aneurysm with cleft sternum, supraumbilical raphé, and hemangiomatosis: report and review.
Am J Med Genet
; 90(3): 243-5, 2000 Jan 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-10678663
13.
Contribution of connexin 26 mutations to nonsyndromic deafness in Ashkenazi patients and the variable phenotypic effect of the mutation 167delT.
Am J Med Genet
; 95(1): 53-6, 2000 Nov 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-11074495
14.
Agenesis of tibia with ectrodactyly/Gollop-Wolfgang complex associated with congenital heart malformations and additional skeletal abnormalities.
Am J Med Genet
; 84(4): 361-4, 1999 Jun 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-10340652
15.
Oral ciprofloxacin in the management of chronic suppurative otitis media without cholesteatoma in children: preliminary experience in 21 children.
Pediatr Infect Dis J
; 11(11): 925-9, 1992 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-1454433
16.
Genomic organisation of the UDP-N-acetylglucosamine-1-phosphotransferase gamma subunit (GNPTAG) and its mutations in mucolipidosis III.
J Med Genet
; 41(4): e52, 2004 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-15060128
17.
Megalocornea and mental retardation syndrome.
Am J Med Genet
; 29(1): 221-3, 1988 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-3344772
18.
TAT gene mutation analysis in three Palestinian kindreds with oculocutaneous tyrosinaemia type II; characterization of a silent exonic transversion that causes complete missplicing by exon 11 skipping.
J Inherit Metab Dis
; 29(5): 620-6, 2006 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-16917729
19.
Hereditary lymphedema type I associated with VEGFR3 mutation: the first de novo case and atypical presentations.
Clin Genet
; 70(4): 330-5, 2006 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-16965327
20.
Negative expansion of the myotonic dystrophy unstable sequence.
Am J Hum Genet
; 52(6): 1175-81, 1993 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-8503449