المؤلفون: Mahajan, Sonal, Ng, Bobby George, AlAbdi, Lama, Earnest, Paul Daniel James, Sosicka, Paulina, Patel, Nisha, Helaby, Rana, Abdulwahab, Firdous, He, Miao, Alkuraya, Fowzan S, Freeze, Hudson H

مصطلحات موضوعية: Genotype-phenotype correlations

وصف الملف: text/html

Relation: http://jmg.bmj.com/cgi/content/short/60/7/627; http://dx.doi.org/10.1136/jmg-2022-108821

الاتاحة: http://jmg.bmj.com/cgi/content/short/60/7/627
https://doi.org/10.1136/jmg-2022-108821

المؤلفون: AlAbdi, Lama, Shamseldin, Hanan E., Khouj, Ebtissal, Helaby, Rana, Aljamal, Bayan, Alqahtani, Mashael, Almulhim, Aisha, Hamid, Halima, Hashem, Mais O., Abdulwahab, Firdous, Abouyousef, Omar, Jaafar, Amal, Alshidi, Tarfa, Al-Owain, Mohammed, Alhashem, Amal, Al Tala, Saeed, Khan, Arif O., Mardawi, Elham, Alkuraya, Hisham, Faqeih, Eissa, Afqi, Manal, Alkhalifi, Salwa, Rahbeeni, Zuhair, Hagos, Samya T., Al-Ahmadi, Wijdan, Nadeef, Seba, Maddirevula, Sateesh, Khabar, Khalid S. A., Putra, Alexander, Angelov, Angel, Park, Changsook, Reyes Ramos, Ana, Umer, Husen, Ullah, Ikram, Driguez, Henry Patrick, Fukasawa, Yoshinori, Cheung, Ming Sin, Gallouzi, Imed Eddine, Alkuraya, Fowzan S.

المساهمون: King Abdullah University of Science and Technology (KAUST), Core Labs, Thuwal, Saudi Arabia, Engineering (BESE) Division, King Abdullah University of Science and Technology (KAUST), Thuwal, Saudi Arabia., Sanger and Third Generation Sequencing, Bioinformatics, Bioscience Core Lab, Biological and Environmental Science and Engineering (BESE) Division, Department of Zoology, Collage of Science, King Saud University, Riyadh, Saudi Arabia., Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia, Department of Medical Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia, Collage of Medicine, Alfaisal University, Riyadh, Saudi Arabia, Pediatric Department, Division of Genetic and Metabolic Medicine, Prince Sultan Medical Military City, Riyadh, Saudi Arabia, Pediatric Department, Neonatal Unit, Armed Forces Hospital, Khamis Mushayt, Saudi Arabia, Eye Institute, Cleveland Clinic Abu Dhabi, Abu Dhabi, United Arab Emirates, Department of Ophthalmology, Cleveland Clinic Lerner College of Medicine of Case Western Reserve University, Cleveland, OH, USA, Maternal Fetal Medicine, Security Forces Hospital Program, Riyadh, Saudi Arabia, Vitreoretinal Surgery and Ocular Genetics, Global Eye Care/Specialized Medical Center Hospital, Riyadh, Saudi Arabia, Section of Medical Genetics, King Fahad Medical City, Children’s Specialist Hospital, Riyadh, Saudi Arabia, Metabolic and Genetic Center, King Salman Bin Abdulaziz Medical City, Almadinah Almunwarah, Saudi Arabia, Newborn Screening, Ministry of Health, Eastern Province, Saudi Arabia, Department of Clinical Genomics, Center for Genomic Medicine, King Faisal Specialist Hos‑ pital and Research Center, Riyadh, Saudi Arabia, Department of Molecular Biomedicine, King Faisal Specialist Hospital and Research Centre, Riyadh, SaudiArabia

وصف الملف: application/pdf

Relation: https://genomemedicine.biomedcentral.com/articles/10.1186/s13073-023-01270-8; Genome Medicine; http://hdl.handle.net/10754/696110; 15

الاتاحة: http://hdl.handle.net/10754/696110
https://doi.org/10.1186/s13073-023-01270-8

المؤلفون: AlAbdi, Lama, Maddirevula, Sateesh, Shamseldin, Hanan E., Khouj, Ebtissal, Helaby, Rana, Hamid, Halima, Almulhim, Aisha, Hashem, Mais O., Abdulwahab, Firdous, Abouyousef, Omar, Alqahtani, Mashael, Altuwaijri, Norah, Jaafar, Amal, Alshidi, Tarfa, Alzahrani, Fatema, Al-Sagheir, Afaf I., Mansour, Ahmad M., Alawaji, Ali, Aldhilan, Amal, Alhashem, Amal, Alhemidan, Amal, Nabil, Amira, Khan, Arif O., Aljohar, Aziza, Alsaleem, Badr, Tabarki, Brahim, Lourenco, Charles Marques, Faqeih, Eissa, AlShail, Essam, Almesaifri, Fatima, Mutairi, Fuad Al, Alzaidan, Hamad, Morsy, Heba, Alshihry, Hind, Alkuraya, Hisham, Girisha, Katta Mohan, Al-Fayez, Khawla, Al-Rubeaan, Khalid, kraoua, Lilia, Alnemer, Maha, Tulbah, Maha, Zaki, Maha S., Alfadhel, Majid, Abouelhoda, Mohammed, Nezarati, Marjan M., Al-Qattan, Mohammad, Shboul, Mohammad, Abanemai, Mohammed, Al-Muhaizea, Mohammad A., Al-owain, Mohammed

المصدر: Nature Communications ; volume 14, issue 1 ; ISSN 2041-1723

الاتاحة: http://dx.doi.org/10.1038/s41467-023-40909-3
https://www.nature.com/articles/s41467-023-40909-3.pdf
https://www.nature.com/articles/s41467-023-40909-3

المؤلفون: AlAbdi, Lama, Rahbeeni, Zuhair, Maddirevula, Sateesh, Helaby, Rana, Abdulwahab, Firdous, Khan, Arif O., Riley, Lisa G., Alhashem, Amal, Chassaing, Nicolas, Jamieson, Robyn V., Alkuraya, Fowzan S.

المصدر: Clinical Genetics; Jul2024, Vol. 106 Issue 1, p66-71, 6p

مصطلحات موضوعية: PULMONARY hypoplasia, HUMAN abnormalities, SYNDROMES, SELF-expression, MICROPHTHALMIA, PHENOTYPES

المؤلفون: Khan, Arif O., AlAbdi, Lama, Patel, Nisha, Helaby, Rana, Hashem, Mais, Abdulwahab, Firdous, AlBadr, Fahad B., Alkuraya, Fowzan S.

المصدر: Molecular Genetics & Genomic Medicine ; volume 9, issue 5 ; ISSN 2324-9269 2324-9269

الاتاحة: http://dx.doi.org/10.1002/mgg3.1628
https://onlinelibrary.wiley.com/doi/pdf/10.1002/mgg3.1628
https://onlinelibrary.wiley.com/doi/full-xml/10.1002/mgg3.1628

المؤلفون: AlAbdi, Lama, Alrashseed, Shatha, Alsulaiman, Ahood, Helaby, Rana, Imtiaz, Faiqa, Alhamed, Mohamed, Alkuraya, Fowzan S.

المصدر: Genetics in Medicine ; volume 23, issue 12, page 2448-2454 ; ISSN 1098-3600

الاتاحة: http://dx.doi.org/10.1038/s41436-021-01289-5
https://www.nature.com/articles/s41436-021-01289-5.pdf
https://www.nature.com/articles/s41436-021-01289-5
https://api.elsevier.com/content/article/PII:S109836002105437X?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S109836002105437X?httpAccept=text/plain

المؤلفون: Maddirevula, Sateesh, Kuwahara, Hiroyuki, Ewida, Nour, Shamseldin, Hanan E, Patel, Nisha, AlZahrani, Fatema, AlSheddi, Tarfa, AlObeid, Eman, Alenazi, Mona, Alsaif, Hessa S, Alqahtani, Maha, AlAli, Maha, Al Ali, Hatoon, Helaby, Rana, Ibrahim, Niema, Abdulwahab, Firdous, Hashem, Mais, Hanna, Nadine, Monies, Dorota, Derar, Nada, Alsagheir, Afaf, Alhashem, Amal, Alsaleem, Badr, Alhebbi, Hamoud, Wali, Sami, Umarov, Ramzan, Gao, Xin, Alkuraya, Fowzan S.

المساهمون: Computational Bioscience Research Center (CBRC), Computer Science Program, Computer, Electrical and Mathematical Sciences and Engineering (CEMSE) Division, Structural and Functional Bioinformatics Group, Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia., Département de génétique, AP-HP, Hôpital Bichat, Université de Paris, LVTS INSERM U1148, Paris, France., Department of Pediatrics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia., Deparmtent of Medical Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia., Department of Anatomy and Cell Biology, College of Medicine, Alfaisal University, Riyadh, Saudi Arabia., Division of Pediatric Gastroenterology, Children’s Hospital, King Fahad Medical City, Riyadh, Saudi Arabia.

وصف الملف: application/pdf

Relation: https://genomebiology.biomedcentral.com/articles/10.1186/s13059-020-02053-9; Maddirevula, S., Kuwahara, H., Ewida, N., Shamseldin, H. E., Patel, N., Alzahrani, F., … Alkuraya, F. S. (2020). Analysis of transcript-deleterious variants in Mendelian disorders: implications for RNA-based diagnostics. Genome Biology, 21(1). doi:10.1186/s13059-020-02053-9; Genome biology; http://hdl.handle.net/10754/663747; 21

الاتاحة: http://hdl.handle.net/10754/663747
https://doi.org/10.1186/s13059-020-02053-9

المؤلفون: Alkuraya, Hisham, Patel, Nisha, Ibrahim, Niema, Al Ghamdi, Bandar, Alsulaiman, Sulaiman M., Nowilaty, Sawsan R., Abboud, Emad, Alturki, Ramadan, Alkharashi, Abdullah, Eyaid, Wafaa, Almasseri, Zainab, Alzaidan, Hamad, Alotaibi, Mohammed D., Abu El‐Asrar, Ahmed M., Alamro, Bandar, Helaby, Rana, Elshaer, Amani, Almontashiri, Naif A.M., Al‐Hussaini, Abdulrahman A., Alkuraya, Fowzan S.

المصدر: Clinical Genetics ; volume 97, issue 3 ; ISSN 0009-9163 1399-0004

الاتاحة: http://dx.doi.org/10.1111/cge.13724
https://onlinelibrary.wiley.com/doi/pdf/10.1111/cge.13724

المؤلفون: AlAbdi, Lama, Desbois, Muriel, Rusnac, DomniÅ£a-Valeria, Sulaiman, Raashda A, Rosenfeld, Jill A, Lalani, Seema, Murdock, David R, Burrage, Lindsay C, Billie Au, Ping Yee, Towner, Shelley, Wilson, William G, Wong, Lawrence, Brunet, Theresa, Strobl-Wildemann, Gertrud, Burton, Jennifer E, Hoganson, George, McWalter, Kirsty, Begtrup, Amber, Zarate, Yuri A, Christensen, Elyse L, Opperman, Karla J, Giles, Andrew C, Helaby, Rana, Kania, Artur, Zheng, Ning, Grill, Brock, Alkuraya, Fowzan S

المصدر: Journal Articles

مصطلحات موضوعية: Animals, Humans, Corpus Callosum, Caenorhabditis elegans, Intellectual Disability, Phenotype, Ligases, Ubiquitins, Agenesis of Corpus Callosum, Ubiquitin-Protein Ligases, Adaptor Proteins, Signal Transducing, Guanine Nucleotide Exchange Factors, Caenorhabditis elegans Proteins, Internal Medicine, Medical Sciences, Medical Specialties, Medicine and Health Sciences, Neurology

وصف الملف: application/pdf

Relation: https://digitalcommons.library.tmc.edu/uthmed_docs/641; https://digitalcommons.library.tmc.edu/context/uthmed_docs/article/1638/viewcontent/awac364.pdf

الاتاحة: https://digitalcommons.library.tmc.edu/uthmed_docs/641
https://digitalcommons.library.tmc.edu/context/uthmed_docs/article/1638/viewcontent/awac364.pdf

المؤلفون: AlAbdi, Lama, Alshammari, Muneera, Helaby, Rana, Khan, Arif O., Alkuraya, Fowzan S.

المساهمون: King Salman Center for Disability Research, Researchers Supporting Project King Saudi University

المصدر: Human Genetics ; volume 142, issue 1, page 139-144 ; ISSN 0340-6717 1432-1203

الاتاحة: http://dx.doi.org/10.1007/s00439-022-02489-y
https://link.springer.com/content/pdf/10.1007/s00439-022-02489-y.pdf
https://link.springer.com/article/10.1007/s00439-022-02489-y/fulltext.html

المؤلفون: AlAbdi, Lama, Alshammari, Muneera, Helaby, Rana, Khan, Arif O., Alkuraya, Fowzan S.

المصدر: Human Genetics; Jan2023, Vol. 142 Issue 1, p139-144, 6p

مصطلحات موضوعية: ALBINISM, HIRSCHSPRUNG'S disease, SCAFFOLD proteins, MOLECULAR diagnosis, MELANINS, HYPOPIGMENTATION

المؤلفون: AlAbdi, Lama, Rahbeeni, Zuhair, Maddirevula, Sateesh, Helaby, Rana, Abdulwahab, Firdous, Khan, Arif O, Riley, Lisa G, Alhashem, Amal, Chassaing, Nicolas, Jamieson, Robyn V, Alkuraya, Fowzan S

الاتاحة: http://dx.doi.org/10.1111/cge.14512/v2/response1

المؤلفون: Mahajan, Sonal, Ng, Bobby George, AlAbdi, Lama, Earnest, Paul Daniel James, Sosicka, Paulina, Patel, Nisha, Helaby, Rana, Abdulwahab, Firdous, He, Miao, Alkuraya, Fowzan S, Freeze, Hudson H

المصدر: Journal of Medical Genetics (JMG); 2023, Vol. 60 Issue: 7 p627-635, 9p

المؤلفون: Zha, Congyao, Farah, Carole A., Holt, Richard J., Ceroni, Fabiola, AlAbdi, Lama, Thuriot, Fanny, Khan, Arif O, Helaby, Rana, Lévesque, Sébastien, Alkuraya, Fowzan S, Kraus, Alison, Ragge, Nicola, Sossin, Wayne S

المصدر: Biallelic variants in the small optic lobe calpain CAPN15 are associated with congenital eye anomalies, deafness and other neurodevelopmental deficits

وصف الملف: application/pdf

Relation: https://radar.brookes.ac.uk/radar/items/b0ddfd8e-da96-4145-8378-6f53339241e8/1/; https://radar.brookes.ac.uk/radar/file/b0ddfd8e-da96-4145-8378-6f53339241e8/1/CAPN15_fulltext.pdf

الاتاحة: https://radar.brookes.ac.uk/radar/items/b0ddfd8e-da96-4145-8378-6f53339241e8/1/
https://radar.brookes.ac.uk/radar/file/b0ddfd8e-da96-4145-8378-6f53339241e8/1/CAPN15_fulltext.pdf

المؤلفون: Patel, Nisha, Alkeraye, Salim, Alobeid, Eman, Alshidi, Tarfa, Helaby, Rana, Abdulwahab, Firdous, Shamseldin, Hanan E., Alkuraya, Fowzan S.

المصدر: Clinical Genetics ; volume 97, issue 4, page 661-665 ; ISSN 0009-9163 1399-0004

الاتاحة: http://dx.doi.org/10.1111/cge.13699
https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1111%2Fcge.13699
https://onlinelibrary.wiley.com/doi/pdf/10.1111/cge.13699
https://onlinelibrary.wiley.com/doi/full-xml/10.1111/cge.13699

المؤلفون: Al-Abdi, Lama, Al Murshedi, Fathiya, Elmanzalawy, Alaa, Al Habsi, Asila, Helaby, Rana, Ganesh, Anuradha, Ibrahim, Niema, Patel, Nisha, Alkuraya, Fowzan S.

المصدر: Human Genetics ; volume 139, issue 5, page 615-622 ; ISSN 0340-6717 1432-1203

الاتاحة: http://dx.doi.org/10.1007/s00439-020-02144-4
http://link.springer.com/content/pdf/10.1007/s00439-020-02144-4.pdf
http://link.springer.com/article/10.1007/s00439-020-02144-4/fulltext.html

المؤلفون: Sateesh Maddirevula, Kuwahara, Hiroyuki, Ewida, Nour, Shamseldin, Hanan E., Patel, Nisha, Alzahrani, Fatema, Tarfa AlSheddi, AlObeid, Eman, Alenazi, Mona, Hessa S. Alsaif, Alqahtani, Maha, AlAli, Maha, Hatoon Al Ali, Helaby, Rana, Niema Ibrahim, Firdous Abdulwahab, Hashem, Mais, Hanna, Nadine, Monies, Dorota, Derar, Nada, Alsagheir, Afaf, Alhashem, Amal, Alsaleem, Badr, Hamoud Alhebbi, Wali, Sami, Ramzan Umarov, Gao, Xin, Alkuraya, Fowzan S.

مصطلحات موضوعية: genetic processes, natural sciences

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::557e7574114f14442e66ce879e2818ef

المؤلفون: Sateesh Maddirevula, Kuwahara, Hiroyuki, Ewida, Nour, Shamseldin, Hanan E., Patel, Nisha, Alzahrani, Fatema, Tarfa AlSheddi, AlObeid, Eman, Alenazi, Mona, Hessa S. Alsaif, Alqahtani, Maha, AlAli, Maha, Hatoon Al Ali, Helaby, Rana, Niema Ibrahim, Firdous Abdulwahab, Hashem, Mais, Hanna, Nadine, Monies, Dorota, Derar, Nada, Alsagheir, Afaf, Alhashem, Amal, Alsaleem, Badr, Hamoud Alhebbi, Wali, Sami, Ramzan Umarov, Gao, Xin, Alkuraya, Fowzan S.

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::44a22a18a6e98db2f8a854a51f399e85

المؤلفون: Alkuraya, Hisham, Patel, Nisha, Ibrahim, Niema, Al Ghamdi, Bandar, Alsulaiman, Sulaiman M., Nowilaty, Sawsan R., Abboud, Emad, Alturki, Ramadan, Alkharashi, Abdullah, Eyaid, Wafaa, Almasseri, Zainab, Alzaidan, Hamad, Alotaibi, Mohammed D., Abu El‐Asrar, Ahmed M., Alamro, Bandar, Helaby, Rana, Elshaer, Amani, Almontashiri, Naif A.M., Al‐Hussaini, Abdulrahman A., Alkuraya, Fowzan S.

المصدر: Clinical Genetics ; volume 97, issue 3, page 447-456 ; ISSN 0009-9163 1399-0004

الاتاحة: http://dx.doi.org/10.1111/cge.13676
https://onlinelibrary.wiley.com/doi/pdf/10.1111/cge.13676
https://onlinelibrary.wiley.com/doi/full-xml/10.1111/cge.13676

المؤلفون: Alkuraya, Hisham, Patel, Nisha, Ibrahim, Niema, Al Ghamdi, Bandar, Alsulaiman, Sulaiman M., Nowilaty, Sawsan R., Abboud, Emad, Alturki, Ramadan, Alkharashi, Abdullah, Eyaid, Wafaa, Almasseri, Zainab, Alzaidan, Hamad, Alotaibi, Mohammed D., Abu El‐Asrar, Ahmed M., Alamro, Bandar, Helaby, Rana, Elshaer, Amani, Almontashiri, Naif A.M., Al‐Hussaini, Abdulrahman A., Alkuraya, Fowzan S.

المصدر: Clinical Genetics; Mar2020, Vol. 97 Issue 3, p447-456, 10p, 3 Diagrams, 3 Charts

مصطلحات موضوعية: PULMONARY stenosis, RETINAL artery, CEREBRAL hemorrhage, SYNDROMES, EARLY death