Detalhe da pesquisa
1.
Expanding the PRAAS spectrum: De novo mutations of immunoproteasome subunit ß-type 10 in six infants with SCID-Omenn syndrome.
Am J Hum Genet
; 111(4): 791-804, 2024 Apr 04.
Artigo
Inglês
| MEDLINE | ID: mdl-38503300
2.
An HNRNPK-specific DNA methylation signature makes sense of missense variants and expands the phenotypic spectrum of Au-Kline syndrome.
Am J Hum Genet
; 109(10): 1867-1884, 2022 10 06.
Artigo
Inglês
| MEDLINE | ID: mdl-36130591
3.
Adult-onset Alexander disease among patients of Jewish Syrian descent.
Neurogenetics
; 24(4): 303-310, 2023 10.
Artigo
Inglês
| MEDLINE | ID: mdl-37658208
4.
Whole-exome sequencing reveals a monogenic cause in 56% of individuals with laterality disorders and associated congenital heart defects.
J Med Genet
; 59(7): 691-696, 2022 07.
Artigo
Inglês
| MEDLINE | ID: mdl-34215651
5.
PPP2R1A neurodevelopmental disorder is associated with congenital heart defects.
Am J Med Genet A
; 188(11): 3262-3277, 2022 11.
Artigo
Inglês
| MEDLINE | ID: mdl-36209351
6.
Kidney and urinary tract findings among patients with Kabuki (make-up) syndrome.
Pediatr Nephrol
; 36(12): 4009-4012, 2021 12.
Artigo
Inglês
| MEDLINE | ID: mdl-34570271
7.
Atopic Predilection among Kawasaki Disease Patients: A Cross-Sectional Study of 1,187,757 Teenagers.
Int Arch Allergy Immunol
; 170(2): 92-6, 2016.
Artigo
Inglês
| MEDLINE | ID: mdl-27437950
8.
Very Early Levodopa May Prevent Self-Injury in Lesch-Nyhan Disease.
Pediatr Neurol
; 155: 156-159, 2024 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-38653184
9.
Oral and fecal polio vaccine excretion following bOPV vaccination among Israeli infants.
Vaccine
; 41(28): 4144-4150, 2023 06 23.
Artigo
Inglês
| MEDLINE | ID: mdl-37268556
10.
What Can We Learn from the Parents of Children Affected with Mucopolysaccharidosis Type III-A in Israel?
Mol Syndromol
; 13(1): 45-49, 2022 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-35221874
11.
Broadening the phenotype of LRRK1 mutations - Features of malignant osteopetrosis and optic nerve atrophy with intrafamilial variable expressivity.
Eur J Med Genet
; 65(1): 104383, 2022 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-34798323
12.
Vici syndrome in Israel: Clinical and molecular insights.
Front Genet
; 13: 991721, 2022.
Artigo
Inglês
| MEDLINE | ID: mdl-36204321
13.
Clinical impact of exome sequencing in the setting of a general pediatric ward for hospitalized children with suspected genetic disorders.
Front Genet
; 13: 1018062, 2022.
Artigo
Inglês
| MEDLINE | ID: mdl-36699461
14.
Ophthalmic manifestations in Kabuki (make-up) syndrome: A single-center pediatric cohort and systematic review of the literature.
Eur J Med Genet
; 64(6): 104210, 2021 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-33794347
15.
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
16.
Transcriptome sequencing identifies a noncoding, deep intronic variant in CLCN7 causing autosomal recessive osteopetrosis.
Mol Genet Genomic Med
; 8(10): e1405, 2020 10.
Artigo
Inglês
| MEDLINE | ID: mdl-32691986
17.
Bedwetting from the heart: Time for a paradigm shift in the minimal diagnostic evaluation of enuresis.
Heart Rhythm
; 19(5): 862-865, 2022 05.
Artigo
Inglês
| MEDLINE | ID: mdl-35501108