Detalhe da pesquisa
1.
Haploinsufficiency of the Notch Ligand DLL1 Causes Variable Neurodevelopmental Disorders.
Am J Hum Genet
; 105(3): 631-639, 2019 09 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-31353024
2.
Systematic evidence-based review: outcomes from exome and genome sequencing for pediatric patients with congenital anomalies or intellectual disability.
Genet Med
; 22(6): 986-1004, 2020 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32203227
3.
Mutations in PURA cause profound neonatal hypotonia, seizures, and encephalopathy in 5q31.3 microdeletion syndrome.
Am J Hum Genet
; 95(5): 579-83, 2014 Nov 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-25439098
4.
Next generation deep sequencing corrects diagnostic pitfalls of traditional molecular approach in a patient with prenatal onset of Pompe disease.
Am J Med Genet A
; 173(9): 2500-2504, 2017 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-28657663
5.
[Introduction of the American Board of Medical Genetics and Genomics (ABMGG) Certification Exams and maintenance of certification].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 36(1): 13-22, 2019 Jan 10.
Artigo
em Zh
| MEDLINE | ID: mdl-30722087
6.
[Standardization and accreditation of training programs in clinical genetics in the United States].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 36(1): 7-12, 2019 Jan 10.
Artigo
em Zh
| MEDLINE | ID: mdl-30722086
7.
[Standard training and certification of clinical geneticist in the United States].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 36(1): 28-31, 2019 Jan 10.
Artigo
em Zh
| MEDLINE | ID: mdl-30722089
8.
The duplication 17p13.3 phenotype: analysis of 21 families delineates developmental, behavioral and brain abnormalities, and rare variant phenotypes.
Am J Med Genet A
; 161A(8): 1833-52, 2013 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-23813913
9.
Population genetics analysis of SLC3A1 and SLC7A9 revealed the etiology of cystine stone may be more than what our current genetic knowledge can explain.
Urolithiasis
; 51(1): 101, 2023 Aug 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-37561200
10.
Compound heterozygote variants: c.848A > G; p.Glu283Gly and c.890C > T; p.Ala297Val, of Isovaleric acid-CoA dehydrogenase (IVD) gene causing severe Isovaleric acidemia with hyperammonemia.
Mol Genet Metab Rep
; 31: 100859, 2022 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-35782626
11.
Novel compound heterozygote variants: c.4193_4206delinsG (p.Leu1398Argfs*25), c.793C > A (p.Pro265Thr), in the CPS1 gene (NM_001875.4) causing late onset carbamoyl phosphate synthetase 1 deficiency-Lessons learned.
Mol Genet Metab Rep
; 33: 100942, 2022 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-36466970
12.
Variants in PHF8 cause a spectrum of X-linked neurodevelopmental disorders and facial dysmorphology.
HGG Adv
; 3(3): 100102, 2022 Jul 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-35469323
13.
Identical twin sisters with Rubinstein-Taybi syndrome associated with Chiari malformations and syrinx.
Am J Med Genet A
; 155A(11): 2766-70, 2011 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-21932317
14.
A novel, germline, deactivating CBL variant p.L493F alters domain orientation and is associated with multiple childhood cancers.
Cancer Genet
; 254-255: 18-24, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33550024
15.
Molecular analysis expands the spectrum of phenotypes associated with GLI3 mutations.
Hum Mutat
; 31(10): 1142-54, 2010 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-20672375
16.
Identification of a submicroscopic 3.2 Mb chromosomal 16q12.2-13 deletion in a child with short stature, mild developmental delay, and craniofacial anomalies, by high-density oligonucleotide array-a recognizable syndrome.
Am J Med Genet A
; 152A(9): 2365-71, 2010 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-20803649
17.
Male with mosaicism for supernumerary ring X chromosome: analysis of phenotype and characterization of genotype using array comparative genome hybridization.
J Craniofac Surg
; 21(5): 1369-75, 2010 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-20856023
18.
Somatic and germ-line mosaicism in Rubinstein-Taybi syndrome.
Am J Med Genet A
; 149A(7): 1463-7, 2009 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-19533794
19.
Prevalence of Creatine Deficiency Syndromes in Children With Nonsyndromic Autism.
Pediatrics
; 137(1)2016 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-26684475
20.
Teebi hypertelorism syndrome: report of a family with previously unrecognized findings.
Am J Med Genet
; 113(3): 302-6, 2002 Dec 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-12439902