Detalhe da pesquisa
1.
Seeing is believing: Correlating optoelectronic functionality with atomic scale imaging of single semiconductor nanocrystals.
J Chem Phys
; 160(13)2024 Apr 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-38573848
2.
Biallelic ADAM22 pathogenic variants cause progressive encephalopathy and infantile-onset refractory epilepsy.
Brain
; 145(7): 2301-2312, 2022 07 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-35373813
3.
[HOW SIMPLE IS "SIMPLE" GENETIC COUNSELING?]
Harefuah
; 162(6): 381-385, 2023 Jun.
Artigo
em Hebraico
| MEDLINE | ID: mdl-37394442
4.
Activating MRAS mutations cause Noonan syndrome associated with hypertrophic cardiomyopathy.
Hum Mol Genet
; 29(11): 1772-1783, 2020 07 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-31108500
5.
The anxiety caused by abnormal results of Down syndrome screening tests.
J Obstet Gynaecol
; 42(7): 2893-2898, 2022 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-35993543
6.
A novel truncating variant in the FGD1 gene associated with Aarskog-Scott syndrome in a family previously diagnosed with Tel Hashomer camptodactyly.
Am J Med Genet A
; 185(10): 3161-3166, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34145742
7.
The effect of polyhydramnios degree on chromosomal microarray results: a retrospective cohort analysis of 742 singleton pregnancies.
Arch Gynecol Obstet
; 304(3): 649-656, 2021 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-33591382
8.
Spectrum of genes for inherited hearing loss in the Israeli Jewish population, including the novel human deafness gene ATOH1.
Clin Genet
; 98(4): 353-364, 2020 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-33111345
9.
A novel heterozygous loss-of-function DCC Netrin 1 receptor variant in prenatal agenesis of corpus callosum and review of the literature.
Am J Med Genet A
; 182(1): 205-212, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31697046
10.
The rare 13q33-q34 microdeletions: eight new patients and review of the literature.
Hum Genet
; 138(10): 1145-1153, 2019 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-31321490
11.
Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants.
Genet Med
; 20(10): 1175-1185, 2018 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-29469822
12.
Microarray analysis in pregnancies with isolated unilateral kidney agenesis.
Pediatr Res
; 83(4): 825-828, 2018 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-29320483
13.
Whole-exome sequencing reveals a novel missense mutation in the MARS gene related to a rare Charcot-Marie-Tooth neuropathy type 2U.
J Peripher Nerv Syst
; 23(2): 138-142, 2018 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-29582526
14.
Risk for chromosomal aberrations in apparently isolated intrauterine growth restriction: A systematic review.
Prenat Diagn
; 37(11): 1061-1066, 2017 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-28944967
15.
The yield and complications of amniocentesis performed after 24 weeks of gestation.
Arch Gynecol Obstet
; 296(1): 69-75, 2017 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-28540575
16.
National Rapid Genome Sequencing in Neonatal Intensive Care.
JAMA Netw Open
; 7(2): e240146, 2024 Feb 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-38386321
17.
Spectrum of mutations in the renin-angiotensin system genes in autosomal recessive renal tubular dysgenesis.
Hum Mutat
; 33(2): 316-26, 2012 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-22095942
18.
Diagnostic yield and recognized barriers of an adult neurogenetics clinic.
J Community Genet
; 12(4): 569-576, 2021 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-34478057
19.
A novel mutation in MYCN gene causing congenital absence of the flexor pollicis longus tendon as an unusual presentation of Feingold syndrome 1.
Clin Dysmorphol
; 30(2): 71-75, 2021 Apr 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32925198
20.
Genetic counseling of high-risk isolated populations: A worldwide challenge.
Birth Defects Res
; 112(4): 316-320, 2020 03 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32115902