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Alhaddad, Bader
143  results:
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1

Prospect of genetic disorders in Saudi Arabia:

Alqahtani, Amerh S. ; Alotibi, Raniah S. ; Aloraini, Taghrid...
Frontiers in Genetics.  14 (2023)  - p. , 2023
Link: https://doi.org/10.3389/..
 
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2

Rare EIF4A2 variants are associated with a neurodevelopment..:

Paul, Maimuna S. ; Duncan, Anna R. ; Genetti, Casie A....
The American Journal of Human Genetics.  110 (2023)  1 - p. 120-145 , 2023
Link: https://doi.org/10.1016/..
 
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3

Reclassifying variations of unknown significance in disease..:

Al Eissa, Mariam M. ; Alotibi, Raniah S. ; Alhaddad, Bader...
Frontiers in Genetics.  14 (2023)  - p. , 2023
Link: https://doi.org/10.3389/..
 
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4

Defective phosphatidylethanolamine biosynthesis leads to a ..:

Kaiyrzhanov, Rauan ; Wortmann, Saskia ; Reid, Taryn...
Brain.  144 (2021)  3 - p. e30-e30 , 2021
Link: https://doi.org/10.1093/..
 
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5

De novo variants in neurodevelopmental disorders—experience..:

Brunet, Theresa ; Jech, Robert ; Brugger, Melanie...
Clinical Genetics.  100 (2021)  1 - p. 14-28 , 2021
Link: https://doi.org/10.1111/..
 
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6

New insights into the clinical and molecular spectrum of th..:

Begemann, Anaïs ; Sticht, Heinrich ; Begtrup, Amber...
Genetics in Medicine.  23 (2021)  3 - p. 543-554 , 2021
Link: https://doi.org/10.1038/..
 
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7

Bi-allelic truncating mutations in VWA1 cause neuromyopathy:

Deschauer, Marcus ; Hengel, Holger ; Rupprich, Katrin...
Brain.  144 (2021)  2 - p. 574-583 , 2021
Link: https://doi.org/10.1093/..
 
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8

Identification of disease-causing variants by comprehensive..:

Braunisch, Matthias Christoph ; Riedhammer, Korbinian Maria ; Herr, Pierre-Maurice...
European Journal of Human Genetics.  29 (2020)  2 - p. 262-270 , 2020
Link: https://doi.org/10.1038/..
 
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9

Recessive null-allele variants in MAG associated with spast..:

Zech, Michael ; Brunet, Theresa ; Škorvánek, Matej...
Parkinsonism & Related Disorders.  77 (2020)  - p. 70-75 , 2020
Link: https://doi.org/10.1016/..
 
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10

Genotypic diversity and phenotypic spectrum of infantile li..:

Lenz, Dominic ; Smith, Desirée E.C. ; Crushell, Ellen...
Genetics in Medicine.  22 (2020)  11 - p. 1863-1873 , 2020
Link: https://doi.org/10.1038/..
 
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11

De novo stop-loss variants in CLDN11 cause hypomyelinating ..:

Riedhammer, Korbinian M ; Stockler, Sylvia ; Ploski, Rafal...
Brain.  144 (2020)  2 - p. 411-419 , 2020
Link: https://doi.org/10.1093/..
 
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12

KCNC1‐related disorders: new de novo variants expand the ph..:

Park, Joohyun ; Koko, Mahmoud ; Hedrich, Ulrike B. S....
Annals of Clinical and Translational Neurology.  6 (2019)  7 - p. 1319-1326 , 2019
Link: https://doi.org/10.1002/..
 
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13

Whole‐exome sequencing revealed a nonsense mutation in STKL..:

Umair, Muhammad ; Bilal, Muhammad ; Ali, Raja H....
Clinical Genetics.  96 (2019)  2 - p. 134-139 , 2019
Link: https://doi.org/10.1111/..
 
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14

A Homozygous Splice Site Mutation in SLC25A42, Encoding the..:

, In: JIMD Reports; JIMD Reports, Volume 44,
Iuso, Arcangela ; Alhaddad, Bader ; Weigel, Corina... - p. 1-7 , 2018
Link: https://doi.org/10.1007/..
 
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15

SCYL1 variants cause a syndrome with lowγ-glutamyl-transfer..:

Lenz, Dominic ; McClean, Patricia ; Kansu, Aydan...
Genetics in Medicine.  20 (2018)  10 - p. 1255-1265 , 2018
Link: https://doi.org/10.1038/..
 
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