المؤلفون: Mehrjoo, Yosra, Campeau, Philippe M., Al Abdi, Lama, Aldowaish, Abdullah, Abouyousef, Omar, Alkuraya, Fowzan S., Codina‐Solà, Marta, Cueto‐González, Anna M., Wurtele, Hugo

المساهمون: Canadian Institutes of Health Research, Natural Sciences and Engineering Research Council of Canada, FRQS

المصدر: Clinical Genetics ; volume 106, issue 3, page 342-346 ; ISSN 0009-9163 1399-0004

الاتاحة: http://dx.doi.org/10.1111/cge.14545
https://onlinelibrary.wiley.com/doi/pdf/10.1111/cge.14545

المؤلفون: Alzaben, Khawlah A., Mousa, Ahmed, Al-Abdi, Lama, Alkuraya, Fowzan S., Alsulaiman, Sulaiman M.

المصدر: Ophthalmology Retina ; volume 8, issue 9, page 898-904 ; ISSN 2468-6530

الاتاحة: https://doi.org/10.1016/j.oret.2024.03.020
https://api.elsevier.com/content/article/PII:S2468653024001684?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S2468653024001684?httpAccept=text/plain

المؤلفون: Mehrjoo, Yosra, Campeau, Philippe M., Al Abdi, Lama, Aldowaish, Abdullah, Abouyousef, Omar, Alkuraya, Fowzan S., Codina‐Solà, Marta, Cueto‐González, Anna M., Wurtele, Hugo

المصدر: Clinical Genetics; Sep2024, Vol. 106 Issue 3, p342-346, 5p

مصطلحات موضوعية: SHORT stature, HIGH temperatures, PHENOTYPES, DWARFISM, GENETICS

المؤلفون: Magliyah, Moustafa S., Almarek, Faisal, Nowilaty, Sawsan R., Al-Abdi, Lama, Alkuraya, Fowzan S., Alowain, Mohammed, Schatz, Patrik, Alfaadhel, Talal, Khan, Arif O., Alsulaiman, Sulaiman M.

المصدر: Retina. 43(3):498-505

مصطلحات موضوعية: giant retinal tear, hematuria, lens subluxation, LEPREL1, myopia, nephropathy, proteinuria, rhegmatogenous retinal detachment, stickler syndrome, Medicin och hälsovetenskap, Klinisk medicin, Oftalmologi, Medical and Health Sciences, Clinical Medicine, Ophthalmology

URL الوصول: https://lup.lub.lu.se/record/e0e40e9d-8090-4f6f-9420-bd304d54b45c
http://dx.doi.org/10.1097/IAE.0000000000003691

المؤلفون: Abu-Safieh, Leen, Alrashed, May, Anazi, Shamsa, Alkuraya, Hisham, Khan, Arif O., Al-Owain, Mohammed, Al-Zahrani, Jawahir, Al-Abdi, Lama, Hashem, Mais, Al-Tarimi, Salwa, Sebai, Mohammed-Adeeb, Shamia, Ahmed, Ray-zack, Mohamed D., Nassan, Malik, Al-Hassnan, Zuhair N., Rahbeeni, Zuhair, Waheeb, Saad, Alkharashi, Abdullah, Abboud, Emad, Al-Hazzaa, Selwa A.F., Alkuraya, Fowzan S.

مصطلحات موضوعية: RESEARCH

وصف الملف: text/html

Relation: http://genome.cshlp.org/cgi/content/short/23/2/236; http://dx.doi.org/10.1101/gr.144105.112

الاتاحة: http://genome.cshlp.org/cgi/content/short/23/2/236
https://doi.org/10.1101/gr.144105.112

المؤلفون: Abu-Safieh, Leen, Al-Anazi, Shamsa, Al-Abdi, Lama, Hashem, Mais, Alkuraya, Hisham, Alamr, Mushari, Sirelkhatim, Mugtaba O, Al-Hassnan, Zuhair, Alkuraya, Basim, Mohamed, Jawahir Y, Al-Salem, Ahmad, Alrashed, May, Faqeih, Eissa, Softah, Ameen, Al-Hashem, Amal, Wali, Sami, Rahbeeni, Zuhair, Alsayed, Moeen, Khan, Arif O, Al-Gazali, Lihadh, Taschner, Peter EM, Al-Hazzaa, Selwa, Alkuraya, Fowzan S

المصدر: European Journal of Human Genetics ; volume 20, issue 4, page 420-427 ; ISSN 1018-4813 1476-5438

الاتاحة: http://dx.doi.org/10.1038/ejhg.2011.205
http://www.nature.com/articles/ejhg2011205.pdf
http://www.nature.com/articles/ejhg2011205

المؤلفون: Khan, Arif O., Aldahmesh, Mohammed A., Al-Abdi, Lama, Mohamed, Jawahir Y., Hashem, Mais, Al-Ghamdi, Ismael, Alkuraya, Fowzan S.

المصدر: Ophthalmic Genetics ; volume 32, issue 3, page 138-142 ; ISSN 1381-6810 1744-5094

الاتاحة: http://dx.doi.org/10.3109/13816810.2010.544365
http://www.tandfonline.com/doi/pdf/10.3109/13816810.2010.544365

المؤلفون: Abu-Safieh, Leen, Abboud, Emad B., Alkuraya, Hisham, Shamseldin, Hanan, Al-Enzi, Shamsa, Al-Abdi, Lama, Hashem, Mais, Colak, Dilek, Jarallah, Abdullah, Ahmad, Hala, Bobis, Steve, Nemer, Georges, Bitar, Fadi, Alkuraya, Fowzan S.

المصدر: The American Journal of Human Genetics ; volume 89, issue 2, page 313-319 ; ISSN 0002-9297

الاتاحة: http://dx.doi.org/10.1016/j.ajhg.2011.07.010
https://api.elsevier.com/content/article/PII:S0002929711003041?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S0002929711003041?httpAccept=text/plain

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

المساهمون: CIHR, Baillie Gifford, Microphthalmia, Anophthalmia, Health Innovation Fund, Oxford Brookes University, King Salman Center for Disability Research, Researchers Supporting Project, King Saud University, Université de Sherbrooke, La Fondation du Grand Défi Pierre Lavoie, La Fondation des Étoiles, Health Innovation Challenge Fund

المصدر: Human Molecular Genetics ; volume 29, issue 18, page 3054-3063 ; ISSN 0964-6906 1460-2083

الاتاحة: https://doi.org/10.1093/hmg/ddaa198
http://academic.oup.com/hmg/advance-article-pdf/doi/10.1093/hmg/ddaa198/33938545/ddaa198.pdf
http://academic.oup.com/hmg/article-pdf/29/18/3054/34124988/ddaa198.pdf

المؤلفون: Khan, Arif O., Al-Abdi, Lama, Mohamed, Jawahir Y., Aldahmesh, Mohammed A., Alkuraya, Fowzan S.

المصدر: Journal of American Association for Pediatric Ophthalmology and Strabismus ; volume 15, issue 2, page 198-199 ; ISSN 1091-8531

الاتاحة: http://dx.doi.org/10.1016/j.jaapos.2011.01.156
https://api.elsevier.com/content/article/PII:S1091853111002540?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S1091853111002540?httpAccept=text/plain