Genetic diagnosis in Sudanese and Tunisian families with syndromic intellectual disability through exome sequencing.
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| Title: | Genetic diagnosis in Sudanese and Tunisian families with syndromic intellectual disability through exome sequencing. |
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| Authors: | Yahia A; Department of Biochemistry, Faculty of Medicine, University of Khartoum, Khartoum, Sudan.; Department of Biochemistry, Faculty of Medicine, National University, Khartoum, Sudan.; Institut du Cerveau - Paris Brain Institute, ICM, Sorbonne Université, INSERM, CNRS, APHP, Paris, France.; Ecole Pratique des Hautes Etudes, EPHE, PSL Research University, Paris, France., Ayed IB; Laboratory of Molecular and Cellular Screening Processes (LPCMC), LR15CBS07, Center of Biotechnology of Sfax, University of Sfax, Sfax, Tunisia.; Medical Genetic Department, Hedi Chaker Hospital, Sfax, Tunisia., Hamed AA; Department of Pediatrics, Faculty of Medicine, University of Khartoum, Khartoum, Sudan., Mohammed IN; Department of Pediatrics, Faculty of Medicine, University of Khartoum, Khartoum, Sudan., Elseed MA; Department of Pediatrics, Faculty of Medicine, University of Khartoum, Khartoum, Sudan., Bakhiet AM; Department of Psychiatry, Faculty of Medicine, University of Khartoum, Khartoum, Sudan., Guillot-Noel L; Institut du Cerveau - Paris Brain Institute, ICM, Sorbonne Université, INSERM, CNRS, APHP, Paris, France.; Ecole Pratique des Hautes Etudes, EPHE, PSL Research University, Paris, France., Abozar F; Faculty of Medicine, University of Khartoum, Khartoum, Sudan., Adil R; Faculty of Medicine, University of Khartoum, Khartoum, Sudan., Emad S; Faculty of Medicine, University of Khartoum, Khartoum, Sudan., Abubaker R; Institute of Endemic Diseases, University of Khartoum, Khartoum, Sudan.; National University Biomedical Research Institute (NUBRI), National University, Khartoum, Sudan., Musallam MA; Faculty of Medicine, University of Khartoum, Khartoum, Sudan., Eltazi IZM; Faculty of Medicine, University of Khartoum, Khartoum, Sudan., Omer Z; Department of Hematology and Medical Oncology, University of Cincinnati Medical Center, Cincinnati, Ohio, USA., Maaroof OM; Council of Diagnostic Radiology, Sudan Medical Specialization Board, Khartoum, Sudan., Soussi A; Laboratory of Molecular and Cellular Screening Processes (LPCMC), LR15CBS07, Center of Biotechnology of Sfax, University of Sfax, Sfax, Tunisia., Bouzid A; Laboratory of Molecular and Cellular Screening Processes (LPCMC), LR15CBS07, Center of Biotechnology of Sfax, University of Sfax, Sfax, Tunisia., Kmiha S; Laboratory of Human Molecular Genetics, LR33ES99, Faculty of Medicine of Sfax, University of Sfax, Sfax, Tunisia.; Department of pediatrics, Hedi Chaker Hospital, Sfax, Tunisia., Kamoun H; Medical Genetic Department, Hedi Chaker Hospital, Sfax, Tunisia.; Laboratory of Human Molecular Genetics, LR33ES99, Faculty of Medicine of Sfax, University of Sfax, Sfax, Tunisia., Salih MA; Division of Pediatric Neurology, Department of Pediatrics, College of Medicine, King Saud University, Riyadh, Saudi Arabia.; Department of Pediatrics, College of Medicine, AlMughtaribeen University, Khartoum, Sudan., Ahmed AE; Department of Physiology, Faculty of Medicine, University of Khartoum, Khartoum, Sudan., Elsayed L; Department of Biochemistry, Faculty of Medicine, University of Khartoum, Khartoum, Sudan.; Department of Basic Sciences, College of Medicine, Princess Nourah bint Abdulrahman University, Riyadh, 11671, Saudi Arabia., Masmoudi S; Laboratory of Molecular and Cellular Screening Processes (LPCMC), LR15CBS07, Center of Biotechnology of Sfax, University of Sfax, Sfax, Tunisia., Stevanin G; Institut du Cerveau - Paris Brain Institute, ICM, Sorbonne Université, INSERM, CNRS, APHP, Paris, France.; Ecole Pratique des Hautes Etudes, EPHE, PSL Research University, Paris, France. |
| Source: | Annals of human genetics [Ann Hum Genet] 2022 Jul; Vol. 86 (4), pp. 181-194. Date of Electronic Publication: 2022 Feb 03. |
| Publication Type: | Journal Article; Research Support, Non-U.S. Gov't |
| Journal Info: | Publisher: Wiley-Blackwell Country of Publication: England NLM ID: 0416661 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1469-1809 (Electronic) Linking ISSN: 00034800 NLM ISO Abbreviation: Ann Hum Genet Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
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| ISSN: | 1469-1809 |
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| DOI: | 10.1111/ahg.12460 |
