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Prospect of genetic disorders in Saudi Arabia by Amerh S. Alqahtani, Raniah S. Alotibi, Raniah S. Alotibi, Taghrid Aloraini, Taghrid Aloraini, Fahad Almsned, Fahad Almsned, Fahad Almsned, Yara Alassali, Ahmed Alfares, Bader Alhaddad, Bader Alhaddad, Mariam M. Al Eissa, Mariam M. Al Eissa
Published 2023-09-01
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Reclassifying variations of unknown significance in diseases affecting Saudi Arabia’s population reveal new associations by Mariam M. Al Eissa, Mariam M. Al Eissa, Raniah S. Alotibi, Raniah S. Alotibi, Bader Alhaddad, Bader Alhaddad, Taghrid Aloraini, Taghrid Aloraini, Manar S. Samman, Abdulrahman AlAsiri, Abdulrahman AlAsiri, Mohamed Abouelhoda, Amerh S. AlQahtani
Published 2023-11-01
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Identification of a Novel Heterozygous De Novo 7-bp Frameshift Deletion in PBX1 by Whole-Exome Sequencing Causing a Multi-Organ Syndrome Including Bilateral Dysplastic Kidneys and... by Korbinian Maria Riedhammer, Korbinian Maria Riedhammer, Corinna Siegel, Bader Alhaddad, Carmen Montoya, Reka Kovacs-Nagy, Matias Wagner, Matias Wagner, Matias Wagner, Thomas Meitinger, Thomas Meitinger, Julia Hoefele
Published 2017-11-01
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KCNC1‐related disorders: new de novo variants expand the phenotypic spectrum by Joohyun Park, Mahmoud Koko, Ulrike B. S. Hedrich, Andreas Hermann, Kirsten Cremer, Edda Haberlandt, Mona Grimmel, Bader Alhaddad, Stefanie Beck‐Woedl, Merle Harrer, Daniela Karall, Lisa Kingelhoefer, Andreas Tzschach, Lars C. Matthies, Tim M. Strom, Erich Bernd Ringelstein, Marc Sturm, Hartmut Engels, Markus Wolff, Holger Lerche, Tobias B. Haack
Published 2019-07-01
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