Detalhe da pesquisa
1.
Video Education on Hereditary Breast and Ovarian Cancer (HBOC) for Physicians: an Interventional Study.
J Cancer Educ
; 33(6): 1213-1221, 2018 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-28573517
2.
De novo mutations in beta-catenin (CTNNB1) appear to be a frequent cause of intellectual disability: expanding the mutational and clinical spectrum.
Hum Genet
; 134(1): 97-109, 2015 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-25326669
3.
Physician Risk Assessment Knowledge Regarding BRCA Genetics Testing.
J Cancer Educ
; 30(3): 573-9, 2015 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-25234477
4.
Newborn screening for Duchenne muscular dystrophy: A two-year pilot study.
Ann Clin Transl Neurol
; 10(8): 1383-1396, 2023 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-37350320
5.
Tetrasomy 15q26: a distinct syndrome or Shprintzen-Goldberg syndrome phenocopy?
Genet Med
; 14(9): 811-8, 2012 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-22653535
6.
Prediction of breast cancer risk based on flow variant analysis of circulating peripheral blood mononuclear cells.
HGG Adv
; 3(2): 100085, 2022 Apr 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-35146455
7.
Improving Recruitment for a Newborn Screening Pilot Study with Adaptations in Response to the COVID-19 Pandemic.
Int J Neonatal Screen
; 8(2)2022 Mar 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-35466194
8.
Array comparative genomic hybridisation of 52 subjects with a Smith-Magenis-like phenotype: identification of dosage sensitive loci also associated with schizophrenia, autism, and developmental delay.
J Med Genet
; 47(4): 223-9, 2010 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-19752160
9.
Deletions of the RUNX2 gene are present in about 10% of individuals with cleidocranial dysplasia.
Hum Mutat
; 31(8): E1587-93, 2010 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-20648631
10.
Functional biology of the Steel syndrome founder allele and evidence for clan genomics derivation of COL27A1 pathogenic alleles worldwide.
Eur J Hum Genet
; 28(9): 1243-1264, 2020 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-32376988
11.
Physician knowledge of ethnicity specific differences in BRCA genetic testing.
Breast J
; 20(6): 669-70, 2014.
Artigo
em Inglês
| MEDLINE | ID: mdl-25252187
12.
Clinical and mutational spectrum of neurofibromatosis type 1-like syndrome.
JAMA
; 302(19): 2111-8, 2009 Nov 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-19920235
13.
Precision oncology: lessons learned and challenges for the future.
Cancer Manag Res
; 11: 7525-7536, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-31616176
14.
A de novo apparently balanced translocation [46,XY,t(2;9)(p13;p24)] interrupting RAB11FIP5 identifies a potential candidate gene for autism spectrum disorder.
Am J Med Genet B Neuropsychiatr Genet
; 147B(4): 411-7, 2008 Jun 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-18384058
15.
Acceptance of technology-based tools in a sample of Parkinson's patients.
Chronic Illn
; 13(1): 3-13, 2017 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-27269275
16.
SCN8A mutation in a child presenting with seizures and developmental delays.
Cold Spring Harb Mol Case Stud
; 2(6): a001073, 2016 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-27900360
17.
KBG syndrome involving a single-nucleotide duplication in ANKRD11.
Cold Spring Harb Mol Case Stud
; 2(6): a001131, 2016 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-27900361
18.
No mutations in the serotonin related TPH1 and HTR1B genes in patients with monogenic sclerosing bone disorders.
Bone
; 55(1): 52-6, 2013 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-23563356
19.
Bronchial anomalies in VACTERL association.
Pediatr Pulmonol
; 43(9): 930-2, 2008 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-18671276
20.
Contiguous gene deletion involving L1CAM and AVPR2 causes X-linked hydrocephalus with nephrogenic diabetes insipidus.
Am J Med Genet A
; 143A(6): 594-8, 2007 Mar 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-17318848