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Journal Article
by Santen, Gijs W. E and Aten, Emmelien and Vulto-van Silfhout, Anneke T and Pottinger, Caroline and van Bon, Bregje W. M and van Minderhout, Ivonne J. H. M and Snowdowne, Ronelle and van der Lans, Christian A. C and Boogaard, Merel and Linssen, Margot M. L and Vijfhuizen, Linda and van der Wielen, Michiel J. R and Vollebregt, M. J. Ellen and Breuning, Martijn H and Kriek, Marjolein and van Haeringen, Arie and den Dunnen, Johan T and Hoischen, Alexander and Clayton-Smith, Jill and de Vries, Bert B. A and Hennekam, Raoul C. M and van Belzen, Martine J and Almureikhi, Mariam and Baban, Anwar and Barbosa, Mafalda and Ben-Omran, Tawfeg and Berry, Katherine and Bigoni, Stefania and Boute, Odile and Brueton, Louise and van der Burgt, Ineke and Canham, Natalie and Chandler, Kate E and Chrzanowska, Krystyna and Collins, Amanda L and de Toni, Teresa and Dean, John and den Hollander, Nicolette S and Flore, Leigh Anne and Fryer, Alan and Gardham, Alice and Graham, John M and Harrison, Victoria and Horn, Denise and Jongmans, Marjolijn C and Josifova, gana and Kant, Sarina G and Kapoor, Seema and Kingston, Helen and Kini, Usha and Kleefstra, Tjitske and Krajewska-Walasek, Małgorzata and Kramer, Nancy and Maas, Saskia M and Maciel, Patricia and Mancini, Grazia M. S and Maystadt, Isabelle and McKee, Shane and Milunsky, Jeff M and Nampoothiri, Sheela and Newbury-Ecob, Ruth and Nikkel, Sarah M and Parker, Michael J and Pérez-Jurado, Luis A and Robertson, Stephen P and Rooryck, Caroline and Shears, Debbie and Silengo, Margherita and Singh, Ankur and Smigiel, Robert and Soares, Gabriela and Splitt, Miranda and Stewart, Helen and Sweeney, Elizabeth and Tassabehji, May and Tuysuz, Beyhan and van Eerde, Albertien M and Vincent-Delorme, Catherine and Wilson, Louise C and Yesil, Gozde and Coffin-Siris Consortium and Coffin-Siris consortium and the Coffin-Siris consortium
Human mutation, ISSN 1059-7794, 2013, Volume 34, Issue 11, pp. 1519 - 1528
Journal Article
Cell, ISSN 0092-8674, 12/2016, Volume 167, Issue 6, pp. 1481 - 1494.e18
Journal Article
Human Mutation, ISSN 1059-7794, 02/2019, Volume 40, Issue 2, pp. 230 - 240
Homocystinuria is a rare inborn error of methionine metabolism caused by cystathionine β‐synthase (CBS) deficiency. The prevalence of homocystinuria in Qatar... 
chemical chaperones | in vivo models | Homocystinuria | CBS | Qatar | in silico | p.R336C mutation | CELLS | DOMAIN | MECHANISM | CYSTATHIONINE BETA-SYNTHASE | DEFICIENCY | RESCUE | GENETICS & HEREDITY | MICE | MUTATIONS | CRISPR | Missense mutation | Betaine | Methionine | Cell lines | Mutation | Chaperones | Structure-function relationships
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 06/2019, Volume 179, Issue 6, pp. 927 - 935
Clinical exome sequencing (CES) is rapidly becoming the diagnostic test of choice in patients with suspected Mendelian diseases especially those that are... 
Middle East | Mendelian diseases | clinical exome sequencing | consanguinity | Arab | Qatar | Genetics | Family | Etiology | Phenotypes | Consanguinity
Journal Article
Neuron, ISSN 0896-6273, 01/2013, Volume 77, Issue 2, pp. 259 - 273
Journal Article
Science, ISSN 0036-8075, 10/2012, Volume 338, Issue 6105, pp. 394 - 397
Autism spectrum disorders are a genetically heterogeneous constellation of syndromes characterized by impairments in reciprocal social interaction. Available... 
Phenotypes | Autistic disorder | Diet | Branched chain amino acids | Epilepsy | REPORTS | Stem cells | Amino acids | Pluripotent stem cells | Genetic mutation | Blood plasma | SYRUP-URINE-DISEASE | DEHYDROGENASE KINASE | TRANSPORT | METABOLISM | AMINO-ACIDS | MULTIDISCIPLINARY SCIENCES | MICE | EXPRESSION | 3-Methyl-2-Oxobutanoate Dehydrogenase (Lipoamide) - administration & dosage | Autistic Disorder - diet therapy | Phosphorylation | Humans | Child, Preschool | Molecular Sequence Data | 3-Methyl-2-Oxobutanoate Dehydrogenase (Lipoamide) - deficiency | Male | RNA, Messenger - metabolism | Epilepsy - diet therapy | Intellectual Disability - genetics | Brain - metabolism | Young Adult | Amino Acids, Branched-Chain - administration & dosage | Autistic Disorder - enzymology | Arginine - genetics | Base Sequence | Intellectual Disability - enzymology | Epilepsy - genetics | Female | Child | Intellectual Disability - diet therapy | Autistic Disorder - genetics | Epilepsy - enzymology | Protein Structure, Tertiary | Protein Folding | Mice, Knockout | Homozygote | Animals | Pedigree | Adolescent | 3-Methyl-2-Oxobutanoate Dehydrogenase (Lipoamide) - genetics | Mice | Mutation | Amino Acids, Branched-Chain - blood | Amino Acids, Branched-Chain - deficiency | Autism | Care and treatment | Gene mutations | Genetic aspects | Properties | Identification and classification | Genes | Mutations | Disabilities | Kinases | Patients
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 12/2018, Volume 176, Issue 12, pp. 2850 - 2857
Hyperphosphatasia with mental retardation syndrome 4 (HPMRS4) is a rare autosomal recessive condition caused by an impairment of glycosylphophatidylinositol... 
exome sequencing | alkaline phosphatase | middle‐east | PGAP3 | founder | middle-east | SUBTYPE | SEIZURES | NEUROLOGIC DEFICIT | PIGV MUTATIONS | GENETICS & HEREDITY | Alkaline phosphatase | Missense mutation | Camptodactyly | Hyperphosphatasia | Coxa | Intellectual disabilities | Mutation | Gene mapping | Population genetics | Genetic screening
Journal Article
Journal Article