Detalhe da pesquisa
1.
Germline variants in tumor suppressor FBXW7 lead to impaired ubiquitination and a neurodevelopmental syndrome.
Am J Hum Genet
; 109(4): 601-617, 2022 04 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35395208
2.
GRID1/GluD1 homozygous variants linked to intellectual disability and spastic paraplegia impair mGlu1/5 receptor signaling and excitatory synapses.
Mol Psychiatry
; 2024 Feb 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-38418578
3.
Bleeding phenotype and hemostatic evaluation by thrombin generation in children with Noonan syndrome: A prospective study.
Pediatr Blood Cancer
; 71(2): e30761, 2024 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-37974388
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
em Inglês
| MEDLINE | ID: mdl-34215651
5.
Characterization of SETD1A haploinsufficiency in humans and Drosophila defines a novel neurodevelopmental syndrome.
Mol Psychiatry
; 26(6): 2013-2024, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32346159
6.
PPP2R1A neurodevelopmental disorder is associated with congenital heart defects.
Am J Med Genet A
; 188(11): 3262-3277, 2022 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-36209351
7.
A multidisciplinary nephrogenetic referral clinic for children and adults-diagnostic achievements and insights.
Pediatr Nephrol
; 37(7): 1623-1646, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-34993602
8.
Kidney and urinary tract findings among patients with Kabuki (make-up) syndrome.
Pediatr Nephrol
; 36(12): 4009-4012, 2021 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-34570271
9.
A founder truncating variant in GDF1 causes autosomal-recessive right isomerism and associated congenital heart defects in multiplex Arab kindreds.
Am J Med Genet A
; 182(5): 987-993, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-32144877
10.
Phenotypic expansion of POGZ-related intellectual disability syndrome (White-Sutton syndrome).
Am J Med Genet A
; 182(1): 38-52, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31782611
11.
Enhanced Collagen Deposition in the Duodenum of Patients with Hyaline Fibromatosis Syndrome and Protein Losing Enteropathy.
Int J Mol Sci
; 21(21)2020 Nov 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33147779
12.
MECR Mutations Cause Childhood-Onset Dystonia and Optic Atrophy, a Mitochondrial Fatty Acid Synthesis Disorder.
Am J Hum Genet
; 99(6): 1229-1244, 2016 Dec 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27817865
13.
Nablus syndrome: Easy to diagnose yet difficult to solve.
Am J Med Genet C Semin Med Genet
; 178(4): 447-457, 2018 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-30580486
14.
LMOD3-Associated Nemaline Myopathy: Prenatal Ultrasonographic, Pathologic, and Molecular Findings.
J Ultrasound Med
; 37(7): 1827-1833, 2018 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-29331079
15.
[FMR1 PREMUTATION CARRIERS - ARE THEY REALLY ASYMPTOMATIC?]
Harefuah
; 157(4): 241-244, 2018 Apr.
Artigo
em Hebraico
| MEDLINE | ID: mdl-29688643
16.
Deficiency of the sphingosine-1-phosphate lyase SGPL1 is associated with congenital nephrotic syndrome and congenital adrenal calcifications.
Hum Mutat
; 38(4): 365-372, 2017 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-28181337
17.
EPG5-related Vici syndrome: a paradigm of neurodevelopmental disorders with defective autophagy.
Brain
; 139(Pt 3): 765-81, 2016 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-26917586
18.
Exome sequencing in Jewish and Arab patients with rhabdomyolysis reveals single-gene etiology in 43% of cases.
Pediatr Nephrol
; 32(12): 2273-2282, 2017 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-28779239
19.
The time-consuming demands of the practice of medical genetics in the era of advanced genomic testing.
Genet Med
; 18(4): 372-7, 2016 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-26181490
20.
[RARE DISEASES DTC: DIAGNOSIS, TREATMENT AND CARE].
Harefuah
; 155(4): 241-4, 253, 2016 Apr.
Artigo
em Hebraico
| MEDLINE | ID: mdl-27323543