Detalhe da pesquisa
1.
Exploring the factors affecting classification and reporting of uncertain prenatal microarray findings, using a "virtual fetus" model-a pilot study.
Prenat Diagn
; 44(4): 511-518, 2024 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-38353311
2.
A founder mutation in TCTN2 causes Meckel-Gruber syndrome type 8 among Jews of Ethiopian and Yemenite origin.
Am J Med Genet A
; 185(5): 1610-1613, 2021 05.
Artigo
Inglês
| MEDLINE | ID: mdl-33590725
3.
Fishing for Genes in Autoimmunity.
Isr Med Assoc J
; 18(3-4): 209-11, 2016.
Artigo
Inglês
| MEDLINE | ID: mdl-27228645
4.
Congenital myopathy is caused by mutation of HACD1.
Hum Mol Genet
; 22(25): 5229-36, 2013 Dec 20.
Artigo
Inglês
| MEDLINE | ID: mdl-23933735
5.
Orbital Lymphatic-Venous Malformation Accompanied by an Intraocular Vascular Malformation: A Rare Case Study.
Case Rep Ophthalmol
; 12(2): 396-401, 2021.
Artigo
Inglês
| MEDLINE | ID: mdl-34054491
6.
A single center experience with publicly funded clinical exome sequencing for neurodevelopmental disorders or multiple congenital anomalies.
Sci Rep
; 11(1): 19099, 2021 09 27.
Artigo
Inglês
| MEDLINE | ID: mdl-34580403
7.
A novel de novo 27 bp duplication of the ARX gene, resulting from postzygotic mosaicism and leading to three severely affected males in two generations.
Am J Med Genet A
; 149A(8): 1655-60, 2009 Aug.
Artigo
Inglês
| MEDLINE | ID: mdl-19606478
8.
The clinical spectrum of fetal Niemann-Pick type C.
Am J Med Genet A
; 149A(3): 446-50, 2009 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-19206179
9.
Phenotype variability in Hajdu-Cheney syndrome.
Eur J Med Genet
; 62(1): 35-38, 2019 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-29698804
10.
Evaluation of Diagnostic Yield in Fetal Whole-Exome Sequencing: A Report on 45 Consecutive Families.
Front Genet
; 10: 425, 2019.
Artigo
Inglês
| MEDLINE | ID: mdl-31428121
11.
Vertical transmission of a mutation in exon 1 of the WT1 gene: lessons for genetic counseling.
Am J Med Genet A
; 146A(18): 2332-6, 2008 Sep 15.
Artigo
Inglês
| MEDLINE | ID: mdl-18688870
12.
Involvement of Rho GAP GRAF1 in maintenance of epithelial phenotype.
Cell Adh Migr
; 11(4): 367-383, 2017 07 04.
Artigo
Inglês
| MEDLINE | ID: mdl-27588930