Abu Libdeh, Bassam: search on Z-Library

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1

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

Stanley H. Korman, Naomi Kanazawa, Bassam Abu-Libdeh, Alisa Gutman, Seiichi Tsujino

Journal:

Journal of the Neurological Sciences

Year:

2004

Language:

english

File:

PDF, 331 KB

english, 2004

2

Propionic acidemia mimicking diabetic ketoacidosis

Imad M. Dweikat, Enas N. Naser, Abdulsalam I. Abu Libdeh, Osama J. Naser, Najwan N. Abu Gharbieh, Nizar F. Maraqa, Bassam Y. Abu Libdeh

Journal:

Brain and Development

Year:

2011

Language:

english

File:

PDF, 144 KB

english, 2011

3

Mitochondrial PITRM1 peptidase loss-of-function in childhood cerebellar atrophy

Langer, Yeshaya, Aran, Adi, Gulsuner, Suleyman, Abu Libdeh, Bassam, Renbaum, Paul, Brunetti, Dario, Teixeira, Pedro-Filipe, Walsh, Tom, Zeligson, Sharon, Ruotolo, Roberta, Beeri, Rachel, Dweikat, Imad

Journal:

Journal of Medical Genetics

Year:

2018

Language:

english

File:

PDF, 1.08 MB

english, 2018

4

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

Edvardson, Simon, Murakami, Yoshiko, Nguyen, Thi Tuyet Mai, Shahrour, Maher, St-Denis, Anik, Shaag, Avraham, Damseh, Nadira, Le Deist, Françoise, Bryceson, Yenan, Abu-Libdeh, Bassam, Campeau, Philippe

Journal:

Journal of Medical Genetics

Year:

2017

Language:

english

File:

PDF, 1.17 MB

english, 2017

5

Growth Hormone Deficiency in Congenital Toxoplasmosis

Natsheh, Juma, Abu-Libdeh, Bassam, Abu-Libdeh, Abdulsalam

Journal:

Journal of Child Science

Year:

2018

Language:

english

File:

PDF, 101 KB

english, 2018

6

Organic Solute Transporter-beta ( SLC51B ) Deficiency in Two Brothers with Congenital Diarrhea and Features of Cholestasis

Sultan, Mutaz, Rao, Anuradha, Elpeleg, Orly, Vaz, Frédéric M., Abu Libdeh, Bassam Y, Karpen, Saul J., Dawson, Paul A.

Journal:

Year:

2017

Language:

english

File:

PDF, 1.09 MB

english, 2017

7

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

Patra, Malay, Weiss, Celeste, Abu-Libdeh, Bassam, Ashhab, Motee, Abuzer, Shadi, Elpeleg, Orly, Mahajnah, Muhammad, Kessel, Amit, Azem, Abdussalam

Journal:

European Journal of Human Genetics

Year:

2019

Language:

english

File:

PDF, 1.51 MB

english, 2019

8

A novel mutation in TTC19 associated with isolated complex III deficiency, cerebellar hypoplasia, and bilateral basal ganglia lesions

Melchionda, Laura, Damseh, Nadirah S., Abu Libdeh, Bassam Y., Nasca, Alessia, Elpeleg, Orly, Zanolini, Alice, Ghezzi, Daniele

Journal:

Frontiers in Genetics

Year:

2014

Language:

english

File:

PDF, 1.35 MB

english, 2014

9

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

Khraim, Waseem, Abu-Libdeh, Bassam, Ayesh, Suhail, Dweikat, Imad

Journal:

Brain and Development

Year:

2017

Language:

english

File:

PDF, 680 KB

english, 2017

10

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

Abu-Libdeh, Bassam, Douiev, Liza, Amro, Sarah, Shahrour, Maher, Ta-Shma, Asaf, Miller, Chaya, Elpeleg, Orly, Saada, Ann

Journal:

European Journal of Human Genetics

Year:

2017

Language:

english

File:

PDF, 568 KB

english, 2017

11

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

Imad Dweikat, Mutaz Sultan, Nizar Maraqa, Tareq Hindi, Sara Abu-Rmeileh, Bassam Abu-Libdeh

Journal:

American Journal of Medical Genetics Part A

Year:

2007

Language:

english

File:

PDF, 108 KB

english, 2007

12

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

Ruth Bargal, Marsha Zeigler, Bassam Abu-Libdeh, Vivi Zuri, Hanna Mandel, Ziva Ben Neriah, Fiona Stewart, Nursel Elcioglu, Tareq Hindi, Martine Le Merrer, Gideon Bach, Annick Raas-Rothschild

Journal:

Molecular Genetics and Metabolism

Year:

2006

Language:

english

File:

PDF, 192 KB

english, 2006

13

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

Douiev, Liza, Abu-Libdeh, Bassam, Saada, Ann

Journal:

European Journal of Human Genetics

Year:

2018

Language:

english

File:

PDF, 463 KB

english, 2018

14

PARP10 deficiency manifests by severe developmental delay and DNA repair defect

Shahrour, Maher Awni, Nicolae, Claudia M., Edvardson, Simon, Ashhab, Motee, Galvan, Adri M., Constantin, Daniel, Abu-Libdeh, Bassam, Moldovan, George-Lucian, Elpeleg, Orly

Journal:

Year:

2016

Language:

english

File:

PDF, 2.03 MB

english, 2016

15

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

Abu-Libdeh, Bassam, Ashhab, Motee, Shahrour, Maher, Daana, Muhannad, Dudin, Anwar, Elpeleg, Orly, Edvardson, Simon, Harel, Tamar

Journal:

Year:

2019

Language:

english

File:

PDF, 409 KB

english, 2019

16

Further delineation of CANT1 phenotypic spectrum and demonstration of its role in proteoglycan synthesis

Mathilde Nizon, Céline Huber, Fabio De Leonardis, Rodolphe Merrina, Antonella Forlino, Mélanie Fradin, Beyhan Tuysuz, Bassam Y. Abu-Libdeh, Yasemin Alanay, Beate Albrecht, Lihadh Al-Gazali, Sarenur Yi

Journal:

Year:

2012

Language:

english

File:

PDF, 315 KB

english, 2012

17

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

Patra, Malay, Weiss, Celeste, Abu-Libdeh, Bassam, Ashhab, Motee, Abuzer, Shadi, Elpeleg, Orly, Mahajnah, Muhammad, Kessel, Amit, Azem, Abdussalam

Journal:

European Journal of Human Genetics

Year:

2019

File:

PDF, 1.51 MB

2019

18

Corrigendum to “When Mucolipidosis III meets Mucolipidosis II: GNPTA gene mutations in 24 patients” [Mol. Genet. Metab. 88 (2006) 359–363]

Ruth Bargal, Marsha Zeigler, Bassam Abu-Libdeh, Vivi Zuri, Hanna Mandel, Ziva Ben Neriah, Fiona Stewart, Nursel Elcioglu, Tareq Hindi, Martine Le Merrer, Gideon Bach, Annick Raas-Rothschild

Journal:

Molecular Genetics and Metabolism

Year:

2007

Language:

english

File:

PDF, 77 KB

english, 2007

19

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

Alkufri, Fadi, Shaag, Avraham, Abu-Libdeh, Bassam, Elpeleg, Orly

Journal:

Neurology: Genetics

Year:

2016

Language:

english

File:

PDF, 356 KB

english, 2016

20

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

Damseh, Nadirah, Danson, Chris M., Al-Ashhab, Motee, Abu-Libdeh, Bassam, Gallon, Matthew, Sharma, Kanchan, Yaacov, Barak, Coulthard, Elizabeth, Caldwell, Maeve A., Edvardson, Simon, Cullen, Peter J.,

Journal:

Year:

2015

Language:

english

File:

PDF, 732 KB

english, 2015

21

Neonatal Hypopituitarism: Unusual Presentation

Abu-Libdeh, Abdulsalam, Abu-Libdeh, Bassam, Abdulhag, Ulla

Journal:

Journal of Child Science

Year:

2017

Language:

english

File:

PDF, 99 KB

english, 2017

22

Syndrome of cleft palate, microcephaly, large ears, and short stature (Say syndrome)

Bassam Abu-Libdeh, Atsuko Fujimoto, Marcia Ehinger

Journal:

American Journal of Medical Genetics Part A

Year:

1993

Language:

english

File:

PDF, 758 KB

english, 1993

23

Relationship of Neurologic Degeneration to Genotype in Three Xeroderma Pigmentosum Group G Patients1

Emmert, Steffen, Slor, Hanoch, Busch, David B., Batko, Sima, Albert, Roberta B., Coleman, Donna, Khan, Sikandar G., Abu-Libdeh, Bassam, DiGiovanna, John J., Cunningham, Bari B., Lee, Myung-Moo, Crolli

Journal:

The Journal of Investigative Dermatology

Year:

2002

Language:

english

File:

PDF, 438 KB

english, 2002

24

Ethylmalonic encephalopathy associated with crescentic glomerulonephritis

Dweikat, Imad, Naser, Enas, Damsah, Nadera, Libdeh, Bassam Abu, Bakri, Izzeddin

Journal:

Metabolic Brain Disease

Year:

2012

Language:

english

File:

PDF, 275 KB

english, 2012

25

A Novel Mutation in the CLDN16 Gene in a Palestinian Family with Familial Hypomagnesemia with Hypercalciuria and Nephrocalcinosis

Abu-Libdeh, Abdulsalam, Abu-Libdeh, Bassam, Abdulhag, Ulla

Journal:

Journal of Child Science

Year:

2017

Language:

english

File:

PDF, 174 KB

english, 2017

26

Hypomyelinating leukodystrophy associated with a deleterious mutation in the ATRN gene

Shahrour, Maher Awni, Ashhab, Motee, Edvardson, Simon, Gur, Michal, Abu-Libdeh, Bassam, Elpeleg, Orly

Journal:

Year:

2017

Language:

english

File:

PDF, 1.54 MB

english, 2017

27

A Novel Mutation in the AVPR2 Gene in a Palestinian Family with Nephrogenic Diabetes Insipidus

Abu-Libdeh, Abdulsalam, Wexler, Isaiah, Dweikat, Imad, Zangen, David, Abu-Libdeh, Bassam

Journal:

Journal of Child Science

Year:

2017

Language:

english

File:

PDF, 857 KB

english, 2017

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