Search details
1.
Functional Dysregulation of CDC42 Causes Diverse Developmental Phenotypes.
Am J Hum Genet
; 102(2): 309-320, 2018 02 01.
Article
in English
| MEDLINE | ID: mdl-29394990
2.
Pediatric Myelodysplastic Syndrome With Germline RRAS Mutation: Expanding the Phenotype of RASopathies.
J Pediatr Hematol Oncol
; 43(4): e517-e520, 2021 05 01.
Article
in English
| MEDLINE | ID: mdl-32815881
3.
Functional variants in TBX2 are associated with a syndromic cardiovascular and skeletal developmental disorder.
Hum Mol Genet
; 27(14): 2454-2465, 2018 07 15.
Article
in English
| MEDLINE | ID: mdl-29726930
4.
Correction: Candidate-gene criteria for clinical reporting: diagnostic exome sequencing identifies altered candidate genes among 8% of patients with undiagnosed diseases.
Genet Med
; 20(9): 1099-1102, 2018 09.
Article
in English
| MEDLINE | ID: mdl-29388939
5.
Candidate-gene criteria for clinical reporting: diagnostic exome sequencing identifies altered candidate genes among 8% of patients with undiagnosed diseases.
Genet Med
; 19(2): 224-235, 2017 02.
Article
in English
| MEDLINE | ID: mdl-27513193
6.
Diagnostic Exome Sequencing Identifies a Novel Gene, EMILIN1, Associated with Autosomal-Dominant Hereditary Connective Tissue Disease.
Hum Mutat
; 37(1): 84-97, 2016 Jan.
Article
in English
| MEDLINE | ID: mdl-26462740
7.
Diagnostic exome sequencing provides a molecular diagnosis for a significant proportion of patients with epilepsy.
Genet Med
; 18(9): 898-905, 2016 09.
Article
in English
| MEDLINE | ID: mdl-26795593
8.
CLTC as a clinically novel gene associated with multiple malformations and developmental delay.
Am J Med Genet A
; 170A(4): 958-66, 2016 Apr.
Article
in English
| MEDLINE | ID: mdl-26822784
9.
Enhanced utility of family-centered diagnostic exome sequencing with inheritance model-based analysis: results from 500 unselected families with undiagnosed genetic conditions.
Genet Med
; 17(7): 578-86, 2015 Jul.
Article
in English
| MEDLINE | ID: mdl-25356970
10.
Germline activating MTOR mutation arising through gonadal mosaicism in two brothers with megalencephaly and neurodevelopmental abnormalities.
BMC Med Genet
; 16: 102, 2015 Nov 05.
Article
in English
| MEDLINE | ID: mdl-26542245
11.
TNF ligands: is TALL-1 a trimer or a virus-like cluster?
Nature
; 427(6973): 413-4; discussion 414, 2004 Jan 29.
Article
in English
| MEDLINE | ID: mdl-14749821
12.
A fluorescence microscopy method for quantifying levels of prostaglandin endoperoxide H synthase-1 and CD-41 in MEG-01 cells.
Biol Proced Online
; 3: 54-63, 2001 Dec 12.
Article
in English
| MEDLINE | ID: mdl-12734579
13.
A capillary electrophoresis sequencing method for the identification of mutations in the inverted terminal repeats of adeno-associated virus.
Hum Gene Ther Methods
; 23(2): 128-36, 2012 Apr.
Article
in English
| MEDLINE | ID: mdl-22612656
14.
Toward a fluorescent single-strand conformation polymorphism technique that detects all mutations: F-DOVAM-S.
Anal Biochem
; 368(2): 250-7, 2007 Sep 15.
Article
in English
| MEDLINE | ID: mdl-17618861
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