المؤلفون: Spataro, Nino

المساهمون: University/Department: Universitat Pompeu Fabra. Departament de Ciències Experimentals i de la Salut

مرشدي الرسالة: Bosch Fusté, Elena

المصدر: TDX (Tesis Doctorals en Xarxa)

مصطلحات موضوعية: Mendelian disorders, Complex diseases, Parkinson's disease, Malalties complexes, Malaltia de Parkinson, Mètodes de col.lapse, Copy number variation (CNVs), Malalties mendelianes, Collapsing methods, Variació en el número de còpies

وصف الملف: application/pdf

URL الوصول: http://hdl.handle.net/10803/482220

المؤلفون: Lopera-Maya, Esteban A., Li, Shuang, de Brouwer, Remco, Nolte, Ilja M., van Breen, Justin, Jongbloed, Jan D. H., Swertz, Morris A.^{Aff1, Aff4}, Snieder, Harold, Franke, Lude, Wijmenga, Cisca, de Boer, Rudolf A., Deelen, Patrick^{Aff1, Aff5}, van der Zwaag, Paul A.^{Aff1, IDs12265022103475_cor15}, Sanna, Serena^{Aff1, Aff6, IDs12265022103475_cor16}

المصدر: Journal of Cardiovascular Translational Research. 16(6):1251-1266

المؤلفون: Waleed Aamer, Aljazi Al-Maraghi, Najeeb Syed, Geethanjali Devadoss Gandhi, Elbay Aliyev, Alya A. Al-Kurbi, Omayma Al-Saei, Muhammad Kohailan, Navaneethakrishnan Krishnamoorthy, Sasirekha Palaniswamy, Khulod Al-Malki, Saleha Abbasi, Nourhen Agrebi, Fatemeh Abbaszadeh, Ammira S. Al-Shabeeb Akil, Ramin Badii, Tawfeg Ben-Omran, Bernice Lo, The Qatar Genome Program Research Consortium, Younes Mokrab, Khalid A. Fakhro

المصدر: Genome Medicine, Vol 16, Iss 1, Pp 1-17 (2024)

مصطلحات موضوعية: Mendelian disorders, Rare genetic disease, Genome sequencing, Consanguinity, Qatar, Middle East, Medicine, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1756-994X

URL الوصول: https://doaj.org/article/b4266c219952427a95b95677aa94733a

المؤلفون: Yongjun Song, Reham Abdel Haleem Abo Elwafa, Omneya Magdy Omar, Go Hun Seo, Hane Lee

المصدر: Molecular Genetics & Genomic Medicine, Vol 12, Iss 3, Pp n/a-n/a (2024)

مصطلحات موضوعية: exome sequencing, familial hypercholesterolemia, LDLR, mobile element insertions, rare mendelian disorders, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2324-9269

URL الوصول: https://doaj.org/article/6a7477e0eda544abb134fe80cbc0d97a

المؤلفون: Francesco Kumara Mastrorosa, Danny E. Miller, Evan E. Eichler

المصدر: Genome Medicine, Vol 15, Iss 1, Pp 1-18 (2023)

مصطلحات موضوعية: Long-read sequencing, Genetic variation, Medical genetics, Structural variation, Mendelian disorders, Medicine, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1756-994X

URL الوصول: https://doaj.org/article/58c58f025ae6406da25405679f5e54a3

المؤلفون: Aamer, Waleed, Al-Maraghi, Aljazi, Syed, Najeeb, Gandhi, Geethanjali Devadoss, Aliyev, Elbay, Al-Kurbi, Alya A., Al-Saei, Omayma, Kohailan, Muhammad, Krishnamoorthy, Navaneethakrishnan, Palaniswamy, Sasirekha, Al-Malki, Khulod, Abbasi, Saleha, Agrebi, Nourhen, Abbaszadeh, Fatemeh, Akil, Ammira S. Al-Shabeeb, Badii, Ramin, Ben-Omran, Tawfeg^{Aff4, Aff5, Aff6}, Lo, Bernice^{Aff1, Aff7}, Mokrab, Younes^{Aff1, Aff8, Aff9, IDs13073024013076_cor20}, Fakhro, Khalid A.^{Aff1, Aff7, Aff8, IDs13073024013076_cor21}

المصدر: Genome Medicine. 16(1)

المؤلفون: Maya Chopra, Meera E. Modi, Kira A. Dies, Nancy L. Chamberlin, Elizabeth D. Buttermore, Stephanie Jo Brewster, Lisa Prock, Mustafa Sahin

المصدر: Molecular Therapy: Methods & Clinical Development, Vol 27, Iss , Pp 32-46 (2022)

مصطلحات موضوعية: gene therapy, neurodevelopmental disorders, gene targets, Mendelian disorders, monogenic disorders, rare disease, Genetics, QH426-470, Cytology, QH573-671

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2329050122001176; https://doaj.org/toc/2329-0501

URL الوصول: https://doaj.org/article/b06707dc5eda41d08b9202717d7435f6

المؤلفون: Vlad Cocostîrc, Anamaria Ioana Paștiu, Dana Liana Pusta

المصدر: Animals, Vol 13, Iss 22, p 3568 (2023)

مصطلحات موضوعية: canine inherited neurological diseases, causal variant, Mendelian disorders, Veterinary medicine, SF600-1100, Zoology, QL1-991

وصف الملف: electronic resource

Relation: https://www.mdpi.com/2076-2615/13/22/3568; https://doaj.org/toc/2076-2615

URL الوصول: https://doaj.org/article/150a88541702466da52de4de18f997e8

لا يتم عرض هذه النتيجة على الضيوف.
تسجيل الدخول للوصول الكامل.

المؤلفون: Lot Snijders Blok, Jolijn Verseput, Dmitrijs Rots, Hanka Venselaar, A. Micheil Innes, Connie Stumpel, Katrin Õunap, Karit Reinson, Eleanor G. Seaby, Shane McKee, Barbara Burton, Katherine Kim, Johanna M. van Hagen, Quinten Waisfisz, Pascal Joset, Katharina Steindl, Anita Rauch, Dong Li, Elaine H. Zackai, Sarah E. Sheppard, Beth Keena, Hakon Hakonarson, Andreas Roos, Nicolai Kohlschmidt, Anna Cereda, Maria Iascone, Erika Rebessi, Kristin D. Kernohan, Philippe M. Campeau, Francisca Millan, Jesse A. Taylor, Hanns Lochmüller, Martin R. Higgs, Amalia Goula, Birgitta Bernhard, Danita J. Velasco, Andrew A. Schmanski, Zornitza Stark, Lyndon Gallacher, Lynn Pais, Paul C. Marcogliese, Shinya Yamamoto, Nicholas Raun, Taryn E. Jakub, Jamie M. Kramer, Joery den Hoed, Simon E. Fisher, Han G. Brunner, Tjitske Kleefstra

المصدر: HGG Advances, Vol 4, Iss 1, Pp 100157- (2023)

مصطلحات موضوعية: WDR5, COMPASS, neurodevelopmental disorders, intellectual disability, Mendelian disorders, multiple congenital abnormalities, Genetics, QH426-470

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2666247722000744; https://doaj.org/toc/2666-2477

URL الوصول: https://doaj.org/article/c93dab48c10f4d9a93b8d87c61542fd8