Moghrabi, Nabil: search on Z-Library

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1

Homozygous loss-of-function variants of TASP1 , a gene encoding an activator of the histone methyltransferases KMT2A and KMT2D, cause a syndrome of developmental delay, happy demeanor, distinctive facial features, and congenital anomalies

Suleiman, Jehan, Riedhammer, Korbinian M., Jicinsky, Timothy, Mundt, Melinda, Werner, Laurie, Gusic, Mirjana, Burgemeister, Anna L., Alsaif, Hessa S., Abdulrahim, Maha, Moghrabi, Nabil N, Nicolas-Jilw

Journal:

Year:

2019

Language:

english

File:

PDF, 211 KB

english, 2019

2

Assignment of the Human Peroxisomal Branched-Chain Acyl-CoA Oxidase Gene to Chromosome 3p21·1-p14·2 by Rodent/Human Somatic Cell Hybridization

Nabil N. Moghrabi, Susan L. Naylor, Paul P. Van Veldhoven, Eveline Baumgart, D.Brian Dawson, Michael J. Bennett

Journal:

Biochemical and Biophysical Research Communications

Year:

1997

Language:

english

File:

PDF, 269 KB

english, 1997

3

Geographic distribution of cystic fibrosis transmembrane conductance regulator (CFTR) gene mutations in Saudi Arabia

Banjar, Hanaa, Al-Mogarri, Ibrahim, Nizami, Imran, Al-Haider, Sami, AlMaghamsi, Talal, Alkaf, Sara, Al-Enazi, Abdulaziz, Moghrabi, Nabil

Journal:

International Journal of Pediatrics and Adolescent Medicine

Year:

2019

File:

PDF, 311 KB

2019

4

The first case report of double homozygous of 2 different mutations in the CFTR gene in Saudi Arabia

Banjar, Hanaa, Moghrabi, Nabil, Alotaibi, Tariq, Alotaibi, Sami, Gamalmaz, Hisham

Journal:

International Journal of Pediatrics and Adolescent Medicine

Year:

2017

Language:

english

File:

PDF, 1.23 MB

english, 2017

5

Deficient 17β-Hydroxysteroid Dehydrogenase Type 2 Expression in Endometriosis: Failure to Metabolize 17β-Estradiol 1

Zeitoun, Khaled, Takayama, Kazuto, Sasano, Hironobu, Suzuki, Takashi, Moghrabi, Nabil, Andersson, Stefan, Johns, Alan, Meng, Li, Putman, Michael, Carr, Bruce, Bulun, Serdar E.

Journal:

Journal of Clinical Endocrinology & Metabolism

Year:

1998

Language:

english

File:

PDF, 1.10 MB

english, 1998

6

Genetic defects of the UDP-glucuronosyltransferase-1 (UGT1) gene that cause familial non-haemolytic unconjugated hyperbilirubinaemias

Douglas J. Clarke, Nabil Moghrabi, Gemma Monaghan, Andrew Cassidy, Maureen Boxer, Robert Hume, Brian Burchell

Journal:

Clinica Chimica Acta

Year:

1997

Language:

english

File:

PDF, 679 KB

english, 1997

7

Deleterious Missense Mutations and Silent Polymorphism in the Human 17β-Hydroxysteroid Dehydrogenase 3 Gene (HSD17B3) 1

Moghrabi, Nabil, Hughes, Ieuan A., Dunaif, Andrea, Andersson, Stefan

Journal:

Journal of Clinical Endocrinology & Metabolism

Year:

1998

Language:

english

File:

PDF, 255 KB

english, 1998

8

Physiology and molecular genetics of 17β-hydroxysteroid dehydrogenases

Stefan Andersson, Nabil Moghrabi

Journal:

Year:

1997

Language:

english

File:

PDF, 537 KB

english, 1997

9

Identification of an A-to-G Missense Mutation in Exon 2 of the UGT1 Gene Complex That Causes Crigler-Najjar Syndrome Type 2

Nabil Moghrabi, Douglas J. Clarke, Maureen Boxer, Brian Burchell

Journal:

Year:

1993

File:

PDF, 260 KB

1993

10

Lessons Learned from Large-Scale, First-Tier Clinical Exome Sequencing in a Highly Consanguineous Population

Monies, Dorota, Abouelhoda, Mohammed, Assoum, Mirna, Moghrabi, Nabil, Rafiullah, Rafiullah, Almontashiri, Naif, Alowain, Mohammed, Alzaidan, Hamad, Alsayed, Moeen, Subhani, Shazia, Cupler, Edward, Fad

Journal:

The American Journal of Human Genetics

Year:

2019

File:

PDF, 98 KB

2019

11

De novo truncating variants in WHSC1 recapitulate the Wolf–Hirschhorn (4p16.3 microdeletion) syndrome phenotype

Derar, Nada, Al-Hassnan, Zuhair N, Al-Owain, Mohammed, Monies, Dorota, Abouelhoda, Mohamed, Meyer, Brian F, Moghrabi, Nabil, Alkuraya, Fowzan S

Journal:

Genetics in Medicine

Year:

2018

Language:

english

File:

PDF, 506 KB

english, 2018

12

A Role for the deep orange and carnation Eye Color Genes in Lysosomal Delivery in Drosophila

Evgueni A Sevrioukov, Jing-Ping He, Nabil Moghrabi, Arisa Sunio, Helmut Krämer

Journal:

Year:

1999

Language:

english

File:

PDF, 428 KB

english, 1999

13

Validation of Fanconi anemia complementation Group A assignment using molecular analysis

Moghrabi, Nabil N, Johnson, Monique A, Yoshitomi, Marvin J, Zhu, Xiaoman, Al-Dhalimy, Muhsen J, Olson, Susan B, Grompe, Markus, Richards, C Sue

Journal:

Genetics in Medicine

Year:

2009

Language:

english

File:

PDF, 663 KB

english, 2009

14

Hypochondroplasia, Acanthosis Nigricans, and Insulin Resistance in a Child with FGFR3 Mutation: Is It Just an Association?

Mustafa, Manal, Moghrabi, Nabil, Bin-Abbas, Bassam

Journal:

Case Reports in Endocrinology

Year:

2014

Language:

english

File:

PDF, 803 KB

english, 2014

15

Cell Type-Specific Expression of 17β-Hydroxysteroid Dehydrogenase Type 2 in Human Placenta and Fetal Liver 1

Moghrabi, Nabil, Head, Judith R., Andersson, Stefan

Journal:

Journal of Clinical Endocrinology & Metabolism

Year:

1997

Language:

english

File:

PDF, 4.86 MB

english, 1997

16

17β-Hydroxysteroid Dehydrogenases: Physiological Roles in Health and Disease

Nabil Moghrabi, Stefan Andersson

Journal:

Trends in Endocrinology & Metabolism

Year:

1998

Language:

english

File:

PDF, 167 KB

english, 1998

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