Detalhe da pesquisa
1.
Urogenital and pelvic complications in the Ehlers-Danlos syndromes and associated hypermobility spectrum disorders: A scoping review.
Clin Genet
; 97(1): 168-178, 2020 01.
Artigo
Inglês
| MEDLINE | ID: mdl-31420870
2.
Evaluation and classification of severity for 176 genes on an expanded carrier screening panel.
Prenat Diagn
; 40(10): 1246-1257, 2020 09.
Artigo
Inglês
| MEDLINE | ID: mdl-32474937
3.
Expanding the SPECC1L mutation phenotypic spectrum to include Teebi hypertelorism syndrome.
Am J Med Genet A
; 167A(11): 2497-502, 2015 Nov.
Artigo
Inglês
| MEDLINE | ID: mdl-26111080
4.
Response to Knoppers et al.
Genet Med
; 21(10): 2403, 2019 10.
Artigo
Inglês
| MEDLINE | ID: mdl-30971833
5.
Patient re-contact after revision of genomic test results: points to consider-a statement of the American College of Medical Genetics and Genomics (ACMG).
Genet Med
; 21(4): 769-771, 2019 04.
Artigo
Inglês
| MEDLINE | ID: mdl-30578420
6.
The Ashkenazi Jewish carrier screening panel: evolution, status quo, and disparities.
Prenat Diagn
; 34(12): 1161-7, 2014 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-24996053
7.
More than just skin deep: faciocutaneous clues to genetic syndromes with malignancies.
Oncologist
; 17(7): 930-6, 2012.
Artigo
Inglês
| MEDLINE | ID: mdl-22707513
8.
Type I hyperprolinemia: genotype/phenotype correlations.
Hum Mutat
; 31(8): 961-5, 2010 Aug.
Artigo
Inglês
| MEDLINE | ID: mdl-20524212
9.
Complexities of Clinical Genetics Consultation: An Interprofessional Clinical Skills Workshop.
MedEdPORTAL
; 16: 10869, 2020 01 24.
Artigo
Inglês
| MEDLINE | ID: mdl-32342009
10.
Hypotonia and Lethargy in a Two-Day-Old Male Infant.
Pediatrics
; 144(1)2019 07.
Artigo
Inglês
| MEDLINE | ID: mdl-31227563
11.
Rhabdomyolysis in the military: recognizing late-onset very long-chain acyl Co-A dehydrogenase deficiency.
Mil Med
; 171(7): 657-8, 2006 Jul.
Artigo
Inglês
| MEDLINE | ID: mdl-16895136
12.
OTX2 duplication is implicated in hemifacial microsomia.
PLoS One
; 9(5): e96788, 2014.
Artigo
Inglês
| MEDLINE | ID: mdl-24816892
13.
3q26.33-3q27.2 microdeletion: a new microdeletion syndrome?
Eur J Med Genet
; 56(4): 216-21, 2013 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-23357683
14.
Next-generation DNA sequencing of HEXA: a step in the right direction for carrier screening.
Mol Genet Genomic Med
; 1(4): 260-8, 2013 Nov.
Artigo
Inglês
| MEDLINE | ID: mdl-24498621
15.
Three new families with recurrent male miscarriages and hypercoiled umbilical cord.
Clin Dysmorphol
; 24(3): 128-31, 2015 Jul.
Artigo
Inglês
| MEDLINE | ID: mdl-25793651
16.
Down syndrome serum screening also identifies an increased risk for multicystic dysplastic kidney, two-vessel cord, and hydrocele.
Prenat Diagn
; 28(13): 1204-8, 2008 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-19034930
17.
A newly recognized craniosynostosis syndrome with features of Aarskog-Scott and Teebi syndromes.
Am J Med Genet A
; 143A(12): 1282-6, 2007 Jun 15.
Artigo
Inglês
| MEDLINE | ID: mdl-17506099
18.
Somatic mosaicism for an HRAS mutation causes Costello syndrome.
Am J Med Genet A
; 140(20): 2163-9, 2006 Oct 15.
Artigo
Inglês
| MEDLINE | ID: mdl-16969868
19.
The natural history of trisomy 12p.
Am J Med Genet A
; 140(7): 695-703, 2006 Apr 01.
Artigo
Inglês
| MEDLINE | ID: mdl-16502429
20.
Immune abnormalities are a frequent manifestation of Kabuki syndrome.
Am J Med Genet A
; 135(3): 278-81, 2005 Jun 15.
Artigo
Inglês
| MEDLINE | ID: mdl-15887282