Detalhe da pesquisa
1.
Human TUBB3 mutations perturb microtubule dynamics, kinesin interactions, and axon guidance.
Cell
; 140(1): 74-87, 2010 Jan 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-20074521
2.
Mutations in PIK3C2A cause syndromic short stature, skeletal abnormalities, and cataracts associated with ciliary dysfunction.
PLoS Genet
; 15(4): e1008088, 2019 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-31034465
3.
Mutations in the mitochondrial ribosomal protein MRPS22 lead to primary ovarian insufficiency.
Hum Mol Genet
; 27(11): 1913-1926, 2018 06 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29566152
4.
Loss of Glycine Transporter 1 Causes a Subtype of Glycine Encephalopathy with Arthrogryposis and Mildly Elevated Cerebrospinal Fluid Glycine.
Am J Hum Genet
; 99(5): 1172-1180, 2016 Nov 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-27773429
5.
Establishing the role of PLVAP in protein-losing enteropathy: a homozygous missense variant leads to an attenuated phenotype.
J Med Genet
; 55(11): 779-784, 2018 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-29875123
6.
Features of Patients With Hereditary Mixed Polyposis Syndrome Caused by Duplication of GREM1 and Implications for Screening and Surveillance.
Gastroenterology
; 152(8): 1876-1880.e1, 2017 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-28242209
7.
Trio approach reveals higher risk of PD in carriers of severe vs. mild GBA mutations.
Blood Cells Mol Dis
; 68: 115-116, 2018 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-27864021
8.
Microarray analysis in pregnancies with isolated unilateral kidney agenesis.
Pediatr Res
; 83(4): 825-828, 2018 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-29320483
9.
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
10.
Non-syndromic retinitis pigmentosa due to mutations in the mucopolysaccharidosis type IIIC gene, heparan-alpha-glucosaminide N-acetyltransferase (HGSNAT).
Hum Mol Genet
; 24(13): 3742-51, 2015 Jul 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-25859010
11.
Outcomes after 18 months of eliglustat therapy in treatment-naïve adults with Gaucher disease type 1: The phase 3 ENGAGE trial.
Am J Hematol
; 92(11): 1170-1176, 2017 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-28762527
12.
VarElect: the phenotype-based variation prioritizer of the GeneCards Suite.
BMC Genomics
; 17 Suppl 2: 444, 2016 06 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-27357693
13.
Gastrointestinal Findings in the Largest Series of Patients With Hereditary Biallelic Mismatch Repair Deficiency Syndrome: Report from the International Consortium.
Am J Gastroenterol
; 111(2): 275-84, 2016 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-26729549
14.
Re-evaluation of bone pain in patients with type 1 Gaucher disease suggests that bone crises occur in small bones as well as long bones.
Blood Cells Mol Dis
; 60: 65-72, 2016 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-26051481
15.
Is one diagnosis the whole story? patients with double diagnoses.
Am J Med Genet A
; 170(9): 2338-48, 2016 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-27271787
16.
Constitutional Mismatch Repair Deficiency in Israel: High Proportion of Founder Mutations in MMR Genes and Consanguinity.
Pediatr Blood Cancer
; 63(3): 418-27, 2016 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-26544533
17.
Earlier Age of Breast Cancer Onset in Israeli BRCA Carriers-Is it a Real Phenomenon?
Breast J
; 22(6): 662-666, 2016 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-27533489
18.
CD55 Deficiency and Protein-Losing Enteropathy.
N Engl J Med
; 377(15): 1500, 2017 10 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-29020582
19.
Loss of CD55 in Eculizumab-Responsive Protein-Losing Enteropathy.
N Engl J Med
; 377(1): 87-89, 2017 07 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-28657861
20.
13,845 home therapy infusions with velaglucerase alfa exemplify safety of velaglucerase alfa and increased compliance to every-other-week intravenous enzyme replacement therapy for Gaucher disease.
Blood Cells Mol Dis
; 55(4): 415-8, 2015 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-26460268