Bassam Abu-Libdeh

Bassam Abu-Libdeh

UNVERIFIED PROFILE

Are you Bassam Abu-Libdeh?   Register this Author

Register author
Bassam Abu-Libdeh

Bassam Abu-Libdeh

Publications by authors named "Bassam Abu-Libdeh"

Are you Bassam Abu-Libdeh?   Register this Author

30Publications

793Reads

39Profile Views

Homozygous frameshift variant in NTNG2, encoding a synaptic cell adhesion molecule, in individuals with developmental delay, hypotonia, and autistic features.

Neurogenetics 2019 Oct 2;20(4):209-213. Epub 2019 Aug 2.

Department of Genetic and Metabolic Diseases, Hadassah-Hebrew University Medical Center, POB 12000, 9112001, Jerusalem, Israel.

View Article

Download full-text PDF

Source
http://link.springer.com/10.1007/s10048-019-00583-4
Publisher Site
http://dx.doi.org/10.1007/s10048-019-00583-4DOI Listing
October 2019

A novel variant of the human mitochondrial DnaJ protein, Tid1, associates with a human disease exhibiting developmental delay and polyneuropathy.

Eur J Hum Genet 2019 Jul 15;27(7):1072-1080. Epub 2019 Feb 15.

School of Neurobiology Biochemistry and Biophysics, Sagol School of Neurosciences, Faculty of Life Sciences, Tel Aviv University, Tel Aviv, Israel.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/s41431-019-0358-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6777446PMC
July 2019

Mitochondrial peptidase loss-of-function in childhood cerebellar atrophy.

J Med Genet 2018 09 15;55(9):599-606. Epub 2018 May 15.

Department of Pediatrics, Medical Genetics Institute, Shaare Zedek Medical Center, Hebrew University-Hadassah School of Medicine, Jerusalem, Israel.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1136/jmedgenet-2018-105330DOI Listing
September 2018

Organic solute transporter-β (SLC51B) deficiency in two brothers with congenital diarrhea and features of cholestasis.

Hepatology 2018 08 11;68(2):590-598. Epub 2018 May 11.

Department of Pediatrics, Division of Gastroenterology, Hepatology, and Nutrition, Emory University School of Medicine, Children's Healthcare of Atlanta, Atlanta, GA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/hep.29516DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5847420PMC
August 2018

Cytochrome c oxidase deficiency, oxidative stress, possible antioxidant therapy and link to nuclear DNA damage.

Eur J Hum Genet 2018 04 2;26(4):579-581. Epub 2018 Feb 2.

Monique and Jacques Roboh Department of Genetic Research, Hadassah-Hebrew University Medical Center, Jerusalem, Israel.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/s41431-017-0047-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5891488PMC
April 2018

Mutation in the COX4I1 gene is associated with short stature, poor weight gain and increased chromosomal breaks, simulating Fanconi anemia.

Eur J Hum Genet 2017 10 2;25(10):1142-1146. Epub 2017 Aug 2.

Monique and Jacques Roboh Department of Genetic Research, Hadassah, Hebrew University Medical Center, Jerusalem, Israel.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/ejhg.2017.112DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5602013PMC
October 2017

Clinical heterogeneity of glycine encephalopathy in three Palestinian siblings: A novel mutation in the glycine decarboxylase (GLDC) gene.

Brain Dev 2017 Aug 18;39(7):601-605. Epub 2017 Mar 18.

Metabolic Unit, An-Najah National University, Nablus, Palestine. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.braindev.2017.03.005DOI Listing
August 2017

Hypomyelinating leukodystrophy associated with a deleterious mutation in the ATRN gene.

Neurogenetics 2017 Jul 10;18(3):135-139. Epub 2017 May 10.

Monique and Jacques Roboh Department of Genetic Research, Hadassah, Hebrew University Medical Center, Jerusalem, Israel.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s10048-017-0515-7DOI Listing
July 2017

Erratum to: PARP10 deficiency manifests by severe developmental delay and DNA repair defect.

Neurogenetics 2017 04;18(2):119

Monique and Jacques Roboh Department of Genetic Research, Hadassah, Hebrew University Medical Center, Jerusalem, Israel.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s10048-017-0511-yDOI Listing
April 2017

Mutations in the phosphatidylinositol glycan C () gene are associated with epilepsy and intellectual disability.

J Med Genet 2017 03 30;54(3):196-201. Epub 2016 Sep 30.

Monique and Jacques Roboh Department of Genetic Research, Hadassah-Hebrew University Medical Center, Jerusalem, Israel.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1136/jmedgenet-2016-104202DOI Listing
March 2017

PARP10 deficiency manifests by severe developmental delay and DNA repair defect.

Neurogenetics 2016 10 13;17(4):227-232. Epub 2016 Sep 13.

Monique and Jacques Roboh Department of Genetic Research, Hadassah, Hebrew University Medical Center, Jerusalem, Israel.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s10048-016-0493-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5096377PMC
October 2016

Deleterious mutation in GPR88 is associated with chorea, speech delay, and learning disabilities.

Neurol Genet 2016 Jun 9;2(3):e64. Epub 2016 Mar 9.

Department of Neurosciences (F.A.) and Department of Pediatrics (B.A.-L.), Al-Makassed Islamic Hospital, Jerusalem, Israel; and Monique and Jacques Roboh Department of Genetic Research (A.S., O.E.), Hadassah-Hebrew University Medical Center, Jerusalem, Israel.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1212/NXG.0000000000000064DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4830197PMC
June 2016

A defect in the retromer accessory protein, SNX27, manifests by infantile myoclonic epilepsy and neurodegeneration.

Neurogenetics 2015 Jul 17;16(3):215-221. Epub 2015 Apr 17.

Monique and Jacques Roboh Department of Genetic Research, Hadassah, Hebrew University Medical Center Jerusalem, Jerusalem, Israel.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s10048-015-0446-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4962907PMC
July 2015

Ethylmalonic encephalopathy associated with crescentic glomerulonephritis.

Metab Brain Dis 2012 Dec 15;27(4):613-6. Epub 2012 May 15.

Makassed Hospital, Al-Quds University, Jerusalem, Israel.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s11011-012-9313-yDOI Listing
December 2012

Propionic acidemia mimicking diabetic ketoacidosis.

Brain Dev 2011 May 14;33(5):428-31. Epub 2010 Jul 14.

Metabolic Unit, Makassed Hospital, Jerusalem, Israel; Pediatric Department, Makassed Hospital, Jerusalem, Israel.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.braindev.2010.06.016DOI Listing
May 2011

Gm1 gangliosidosis associated with neonatal-onset of diffuse ecchymoses and mongolian spots.

Indian J Dermatol 2011 Jan;56(1):98-100

Department of Pediatric, Makassed Hospital, Jerusalem, Israel.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.4103/0019-5154.77567DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3088949PMC
January 2011

Tricho-hepato-enteric syndrome: a case of hemochromatosis with intractable diarrhea, dysmorphic features, and hair abnormality.

Am J Med Genet A 2007 Mar;143A(6):581-3

Pediatric Department, Metabolic-Genetic Unit, Makassed Hospital, Jerusalem, Israel.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.31583DOI Listing
March 2007

When Mucolipidosis III meets Mucolipidosis II: GNPTA gene mutations in 24 patients.

Mol Genet Metab 2006 Aug 21;88(4):359-63. Epub 2006 Apr 21.

Department of Human Genetics, Hadassah Hebrew University Medical Center, Jerusalem, Israel.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ymgme.2006.03.003DOI Listing
August 2006

Prenatal diagnosis of beta-thalassemia in the West Bank and Gaza.

Saudi Med J 2005 Nov;26(11):1771-6

Director of Molecular Genetics Laboratory, Makassed Islamic Charitable Hospital, Mount of Olives, 91194 Jerusalem.

View Article

Download full-text PDF

Source
November 2005

Genetic screening of familial Mediterranean fever mutations in the Palestinian population.

Saudi Med J 2005 May;26(5):732-7

Molecular Genetics Laboratory, Makassed Islamic Charitable Hospital, Mount of Olives, PO Box 19482, Jerusalem 91194, Palestine.

View Article

Download full-text PDF

Source
May 2005

Hyperornithinemia, hyperammonemia, and homocitrullinuria syndrome with evidence of mitochondrial dysfunction due to a novel SLC25A15 (ORNT1) gene mutation in a Palestinian family.

J Neurol Sci 2004 Mar;218(1-2):53-8

Department of Clinical Biochemistry, Hadassah-Hebrew University Hospital Medical Center, PO Box 12000, Jerusalem 91120, Israel.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.jns.2003.10.017DOI Listing
March 2004

Prenatal diagnosis for congenital afibrinogenemia caused by a novel nonsense mutation in the FGB gene in a Palestinian family.

Blood 2003 May 2;101(9):3492-4. Epub 2003 Jan 2.

Division of Medical Genetics, University Medical School and University Hospital, Geneva, Switzerland.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1182/blood-2002-10-3116DOI Listing
May 2003