Product
Help
Pricing
About
Jobs
Log in
Get started
Author
Add to collection
Orit Reish
Observed names:
O Reish,
O. REISH,
O. Reish,
Reish Orit
Institution:
Tel Aviv University
Observed institutions:
University of Minnesota,
Tel Aviv University,
Sheba Medical Center,
Rabin Medical Center,
Ghent University Hospital,
Meir Medical Center,
Herzliya Medical Center,
Antwerp University Hospital,
Assaf Harofeh Medical Center
show all 9
ORCID:
0000-0002-9483-238X
Observed ORCID:
0000-0002-9483-238X
OpenAlex ID:
A5082256702
Loss-of-Function Mutation in the Dioxygenase-Encoding FTO Gene Causes Severe Growth Retardation and Multiple Malformations
2009
·
Sarah Boissel
, Orit Reish
, et al.
·
The American Journal of Human Genetics
·
396
PDF
Mutations in Radial Spoke Head Protein Genes RSPH9 and RSPH4A Cause Primary Ciliary Dyskinesia with Central-Microtubular-Pair Abnormalities
2009
·
Victoria H. Castleman
, Leila Romio
, et al.
·
The American Journal of Human Genetics
·
356
PDF
Mutations in NDUFAF3 (C3ORF60), Encoding an NDUFAF4 (C6ORF66)-Interacting Complex I Assembly Protein, Cause Fatal Neonatal Mitochondrial Disease
2009
·
Ann Saada
, Rutger O. Vogel
, et al.
·
The American Journal of Human Genetics
·
168
PDF
Borate transporter SLC4A11 mutations cause both Harboyan syndrome and non-syndromic corneal endothelial dystrophy
2007
·
Julie Desir
, Graciela Moya
, et al.
·
Journal of Medical Genetics
·
165
PDF
Stickler syndrome caused by COL2A1 mutations: genotype–phenotype correlation in a series of 100 patients
2010
·
Kristien P Hoornaert
, Inge Vereecke
, et al.
·
European Journal of Human Genetics
·
155
PDF
The clinical spectrum of fetal Niemann–Pick type C
2009
·
Ronen Spiegel
, Annick Raas‐Rothschild
, et al.
·
American Journal of Medical Genetics Part A
·
96
SCN3A ‐Related Neurodevelopmental Disorder: A Spectrum of Epilepsy and Brain Malformation
2020
·
Tariq Zaman
, Katherine L. Helbig
, et al.
·
Annals of Neurology
·
93
Tyrosinase inhibition due to interaction of homocyst(e)ine with copper: the mechanism for reversible hypopigmentation in homocystinuria due to cystathionine beta-synthase deficiency.
1995
·
O Reish
, D Townsend
, et al.
·
PubMed
·
74
De Novo Occurrence of Novel SPG3A/Atlastin Mutation Presenting as Cerebral Palsy
2006
·
Shirley Rainier
, Carron Sher
, et al.
·
Archives of Neurology
·
68
Cone-rod dystrophy and a frameshift mutation in the PROM1 gene.
2009
·
Eran Pras
, Almogit Abu
, et al.
·
PubMed
·
67
Wiedemann‐Beckwith syndrome: Further prenatal characterization of the condition
2002
·
Orit Reish
, Israela Lerer
, et al.
·
American Journal of Medical Genetics
·
66
Congenital myopathy is caused by mutation of HACD1
2013
·
Emad Muhammad
, Orit Reish
, et al.
·
Human Molecular Genetics
·
58
PDF
Dilemma of trisomy 20 mosaicism detected prenatally: Is it an innocent finding?
1998
·
Orit Reish
, Baruch Wolach
, et al.
·
American Journal of Medical Genetics
·
56
Congenital Short-Bowel and Malrotation: Clinical Presentation and Outcome of Six Affected Offspring in Three Related Families
2001
·
I. Erez
, O. Reish
, et al.
·
European Journal of Pediatric Surgery
·
54
Partial monosomy of chromosome 1p36.3: Characterization of the critical region and delineation of a syndrome
1995
·
Orit Reish
, Susan A. Berry
, et al.
·
American Journal of Medical Genetics
·
52
An outbreak of multiresistant Klebsiella in a neonatal intensive care unit
1993
·
O. Reish
, S. Ashkenazi
, et al.
·
Journal of Hospital Infection
·
51
Fetal abnormalities leading to termination of singleton pregnancy: the 7‐year experience of a single medical center
2006
·
Zvi Vaknin
, Ido Ben‐Ami
, et al.
·
Prenatal Diagnosis
·
49
Fetal abnormalities leading to third trimester abortion: nine‐year experience from a single medical center
2009
·
Oshri Barel
, Zvi Vaknin
, et al.
·
Prenatal Diagnosis
·
47
The molecular basis of ornithine transcarbamylase deficiency: modelling the human enzyme and the effects of mutations.
1995
·
M Tuchman
, H Morizono
, et al.
·
Journal of Medical Genetics
·
47
PDF
The cytogenetic constitution of embryos derived from immature (metaphase I) oocytes obtained after ovarian hyperstimulation
2009
·
Deborah Strassburger
, Alexandra Goldstein
, et al.
·
Fertility and Sterility
·
45
PDF
Lacosamide for SCN2A ‐related intractable neonatal and infantile seizures
2018
·
Flor‐Hirsch Hadar
, Heyman Eli
, et al.
·
Epileptic Disorders
·
42
PDF
Termination of Pregnancy due to Fetal Abnormalities Performed after 23 Weeks’ Gestation: Analysis of Indications in 144 Cases from a Single Medical Center
2009
·
Zvi Vaknin
, Yael Lahat
, et al.
·
Fetal Diagnosis and Therapy
·
42
Brain anomalies, retardation of mentality and growth, ectodermal dysplasia, skeletal malformations, Hirschsprung disease, ear deformity and deafness, eye hypoplasia, cleft palate, cryptorchidism, and kidney dysplasia/hypoplasia BRESEK/BRESHECK: New X-link
1997
·
Orit Reish
, Robert J. Gorlin
, et al.
·
American Journal of Medical Genetics
·
41
Uterine cancer in Jewish Israeli BRCA1/2 mutation carriers
2018
·
Yael Laitman
, Rachel Michaelson‐Cohen
, et al.
·
Cancer
·
38
PDF
Glu274Lys/Gly309Arg Mutation of the Tissue‐Nonspecific Alkaline Phosphatase Gene in Neonatal Hypophosphatasia Associated with Convulsions
2002
·
I. Litmanovitz
, O. Reish
, et al.
·
Journal of Inherited Metabolic Disease
·
37
Show more works
View as search
Works count:
96
Citation count:
3,168
H-index:
30
I10-index:
60
Year
Topic
Type
