المؤلفون: Talal Algoufi, Firdous Abdulwahab, Fowzan S. Alkuraya, Hessa S. Alsaif, Mohammed A. Aldahmesh, Fatimah Aljubran, Arif O. Khan, Haifa Alsedairy, Eissa Faqeih, Muneera J. Alshammari, Sateesh Maddirevula, Mais Hashem, Hadeel Alsharif, Salil A. Lachke, Niema Ibrahim, Nisha Patel, Ahmed Qudair, Dorota Monies, Deepti Anand, Mohammed Al-Owain

المصدر: Human Genetics. 136:205-225

مصطلحات موضوعية: 0301 basic medicine, Microcephaly, Candidate gene, genetic structures, Cleft Lip, Locus (genetics), Biology, Cataract, Article, Mice, Sterol 14-Demethylase, 03 medical and health sciences, 0302 clinical medicine, Locus heterogeneity, Protein Interaction Mapping, Genetics, medicine, Animals, Guanine Nucleotide Exchange Factors, Humans, Global developmental delay, Allele, Child, Alleles, Genetics (clinical), Exome sequencing, Mice, Knockout, Homozygote, Chromosome Mapping, Membrane Proteins, Genomics, Sequence Analysis, DNA, medicine.disease, eye diseases, Human genetics, Phenotype, 030104 developmental biology, Gene Expression Regulation, Genetic Loci, 030221 ophthalmology & optometry, sense organs, Carrier Proteins, Pol1 Transcription Initiation Complex Proteins

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::49c89f029f4826edd2bb190bc02c14ff
https://doi.org/10.1007/s00439-016-1747-6

المؤلفون: Arif O. Khan, Hadeel Alsharif, Mohammed A. Aldahmesh, Fowzan S. Alkuraya

المصدر: Ophthalmic Genetics. 36:58-63

مصطلحات موضوعية: Proband, medicine.medical_specialty, Candidate gene, Adolescent, genetic structures, medicine.medical_treatment, Molecular Sequence Data, Procollagen-Proline Dioxygenase, Genes, Recessive, Cataract Extraction, Gene mutation, Biology, medicine.disease_cause, Cataract, Ectopia Lentis, Consanguinity, Young Adult, Ophthalmology, medicine, Humans, Genetic Testing, Prospective Studies, Child, Ectopia lentis, Genetics (clinical), Mutation, Base Sequence, Juvenile cataract, Homozygote, Exons, Lens Subluxation, Cataract surgery, medicine.disease, eye diseases, Pedigree, Phenotype, medicine.anatomical_structure, Lens (anatomy), Pediatrics, Perinatology and Child Health, Female

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::69ddf87ebe35febb2e46a54314fc57bf
https://doi.org/10.3109/13816810.2014.985847

المؤلفون: Reem Al Sulaiman, Fowzan S. Alkuraya, Stefan T. Arold, Hadeel Alsharif, Nisha Patel

المصدر: Clinical Genetics. 92:230-231

مصطلحات موضوعية: 0301 basic medicine, Axonal neuropathy, Pathology, medicine.medical_specialty, Limb spasticity, business.industry, medicine.disease, 03 medical and health sciences, 030104 developmental biology, 0302 clinical medicine, Atrophy, Genetics, Medicine, Cerebellar atrophy, business, Novel mutation, 030217 neurology & neurosurgery, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::964e4e3848c2a1a0402e2d6a998d598e
https://doi.org/10.1111/cge.12963

المؤلفون: Ranad Shaheen, Szymanska, Katarzyna, Basudha Basu, Patel, Nisha, Ewida, Nour, Faqeih, Eissa, Hashem, Amal Al, Derar, Nada, Hadeel Alsharif, Aldahmesh, Mohammed, Alazami, Anas, Hashem, Mais, Niema Ibrahim, Firdous Abdulwahab, Rawda Sonbul, Alkuraya, Hisham, Alnemer, Maha, Tala, Saeed Al, Al-Husain, Muneera, Morsy, Heba, Seidahmed, Mohammed, Neama Meriki, Al-Owain, Mohammed, AlShahwan, Saad, Tabarki, Brahim, Salih, Mustafa, Faquih, Tariq, El-Kalioby, Mohamed, Ueffing, Marius, Boldt, Karsten, Logan, Clare, Parry, David, Tassan, Nada Al, Monies, Dorota, Megarbane, Andre, Abouelhoda, Mohamed, Anason Halees, Johnson, Colin, Fowzan Alkuraya

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::035c16d3c4c7907c2e8f76f6887c8ef1

المؤلفون: Ali Alasmari, Bandar Al-Saud, Yong Xiong, Emad B. Abboud, Banan Al-Younes, Abeer Al-Mostafa, Ranad Shaheen, Abdulelah AlIssa, Ewa A. Naim, Mohammed A. Aldahmesh, Dorota Monies, Olga Buzovetsky, Niema Ibrahim, Mohamed Abouelhoda, Nada Al-Tassan, Ghada M H Abdel-Salam, Saleh Al-mohsen, Hisham Alkuraya, Hadeel Alsharif, Mohammed Al-Owain, Arif O. Khan, Asma Sunker, Mais Hashem, Sawsan R. Nowilaty, Selwa A.F. Al-Hazzaa, Firdous Abdulwahab, Shamsa Anazi, Hamad Al-Zaidan, Nisha Patel, Fowzan S. Alkuraya

المصدر: Genetics in medicine : official journal of the American College of Medical Genetics. 18(6)

مصطلحات موضوعية: 0301 basic medicine, Male, Mucopolysaccharidosis, Carboxypeptidases, Mitochondrial Membrane Transport Proteins, Retina, Hypogammaglobulinemia, 03 medical and health sciences, Locus heterogeneity, Retinitis pigmentosa, Retinal Dystrophies, Exome Sequencing, Medicine, Humans, Allele, Genetics (clinical), Exome sequencing, Genetics, business.industry, Homozygote, medicine.disease, Cadherins, Pedigree, 030104 developmental biology, Phenotype, Mutation (genetic algorithm), Mutation, Female, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::46369cd13a60ce989ac6d1806e07cd4c
https://pubmed.ncbi.nlm.nih.gov/26355662

المؤلفون: Ranad Shaheen, Szymanska, Katarzyna, Basudha Basu, Patel, Nisha, Ewida, Nour, Faqeih, Eissa, Hashem, Amal Al, Derar, Nada, Hadeel Alsharif, Aldahmesh, Mohammed, Alazami, Anas, Hashem, Mais, Niema Ibrahim, Firdous Abdulwahab, Rawda Sonbul, Alkuraya, Hisham, Alnemer, Maha, Tala, Saeed Al, Al-Husain, Muneera, Morsy, Heba, Seidahmed, Mohammed, Neama Meriki, Al-Owain, Mohammed, AlShahwan, Saad, Tabarki, Brahim, Salih, Mustafa, Faquih, Tariq, El-Kalioby, Mohamed, Ueffing, Marius, Boldt, Karsten, Logan, Clare, Parry, David, Tassan, Nada Al, Monies, Dorota, Megarbane, Andre, Abouelhoda, Mohamed, Anason Halees, Johnson, Colin, Fowzan Alkuraya

مصطلحات موضوعية: 3. Good health

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::15408412a47895a940dd1cd8f155f5fb

المؤلفون: Ranad Shaheen, Szymanska, Katarzyna, Basudha Basu, Patel, Nisha, Ewida, Nour, Faqeih, Eissa, Hashem, Amal Al, Derar, Nada, Hadeel Alsharif, Aldahmesh, Mohammed, Alazami, Anas, Hashem, Mais, Niema Ibrahim, Firdous Abdulwahab, Rawda Sonbul, Alkuraya, Hisham, Alnemer, Maha, Tala, Saeed Al, Al-Husain, Muneera, Morsy, Heba, Seidahmed, Mohammed, Neama Meriki, Al-Owain, Mohammed, AlShahwan, Saad, Tabarki, Brahim, Salih, Mustafa, Faquih, Tariq, El-Kalioby, Mohamed, Ueffing, Marius, Boldt, Karsten, Logan, Clare, Parry, David, Tassan, Nada Al, Monies, Dorota, Megarbane, Andre, Abouelhoda, Mohamed, Anason Halees, Johnson, Colin, Fowzan Alkuraya

مصطلحات موضوعية: 3. Good health

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::c1822c924243142a6be4598bc94a072f

المؤلفون: Ranad Shaheen, Szymanska, Katarzyna, Basudha Basu, Patel, Nisha, Ewida, Nour, Faqeih, Eissa, Hashem, Amal Al, Derar, Nada, Hadeel Alsharif, Aldahmesh, Mohammed, Alazami, Anas, Hashem, Mais, Niema Ibrahim, Firdous Abdulwahab, Rawda Sonbul, Alkuraya, Hisham, Alnemer, Maha, Tala, Saeed Al, Al-Husain, Muneera, Morsy, Heba, Seidahmed, Mohammed, Neama Meriki, Al-Owain, Mohammed, AlShahwan, Saad, Tabarki, Brahim, Salih, Mustafa, Faquih, Tariq, El-Kalioby, Mohamed, Ueffing, Marius, Boldt, Karsten, Logan, Clare, Parry, David, Tassan, Nada Al, Monies, Dorota, Megarbane, Andre, Abouelhoda, Mohamed, Anason Halees, Johnson, Colin, Fowzan Alkuraya

مصطلحات موضوعية: 3. Good health

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::714b8356e58faef0e8870d1abb9a80ae

المؤلفون: Ranad Shaheen, Szymanska, Katarzyna, Basudha Basu, Patel, Nisha, Ewida, Nour, Faqeih, Eissa, Hashem, Amal Al, Derar, Nada, Hadeel Alsharif, Aldahmesh, Mohammed, Alazami, Anas, Hashem, Mais, Niema Ibrahim, Firdous Abdulwahab, Rawda Sonbul, Alkuraya, Hisham, Alnemer, Maha, Tala, Saeed Al, Al-Husain, Muneera, Morsy, Heba, Seidahmed, Mohammed, Neama Meriki, Al-Owain, Mohammed, AlShahwan, Saad, Tabarki, Brahim, Salih, Mustafa, Faquih, Tariq, El-Kalioby, Mohamed, Ueffing, Marius, Boldt, Karsten, Logan, Clare, Parry, David, Tassan, Nada Al, Monies, Dorota, Megarbane, Andre, Abouelhoda, Mohamed, Anason Halees, Johnson, Colin, Fowzan Alkuraya

مصطلحات موضوعية: 3. Good health

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::775f0f7fe53e2d8fe8501e8a206233b9