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1دورية أكاديمية
المؤلفون: Acharya, Anushree, Kavus, Haluk, Dunn, Patrick, Nasir, Abdul, Folk, Leandra, Withrow, Kara, Wentzensen, Ingrid M., Ruzhnikov, Maura R. Z., Fallot, Camille, Smol, Thomas, Rama, Melanie, Brown, Kathleen, Whalen, Sandra, Ziegler, Alban, Barth, Magali, Chassevent, Anna, Smith-Hicks, Constance, Afenjar, Alexandra, Courtin, Thomas, Heide, Solveig, Font-Montgomery, Esperanza, Heid, Caleb, Hamm, J. Austin, Love, Donald R., Thabet, Farouq, Misra, Vinod K., Cunningham, Mitch, Leal, Suzanne M., Järvelä, Irma, Normand, Elizabeth A., Zou, Fanggeng, Helal, Mayada, Keren, Boris, Torti, Erin, Chung, Wendy K., Schrauwen, Isabelle
المساهمون: Irma Järvelä / Principal Investigator, Medicum, Department of Medical and Clinical Genetics
مصطلحات موضوعية: neurology, genetic variation, phenotype, human genetics, INTELLECTUAL DISABILITY, UBIQUITIN LIGASE, VARIANTS, HECW2, MUTATIONS, NEDL2, GENETICS, GENES, 3111 Biomedicine, 1184 Genetics, developmental biology, physiology
وصف الملف: application/pdf
العلاقة: WKC is funded by grants from the JPB Foundation and Simons Foundation. IS is supported by a pilot grant from the Columbia University Sergievsky Center.; Acharya , A , Kavus , H , Dunn , P , Nasir , A , Folk , L , Withrow , K , Wentzensen , I M , Ruzhnikov , M R Z , Fallot , C , Smol , T , Rama , M , Brown , K , Whalen , S , Ziegler , A , Barth , M , Chassevent , A , Smith-Hicks , C , Afenjar , A , Courtin , T , Heide , S , Font-Montgomery , E , Heid , C , Hamm , J A , Love , D R , Thabet , F , Misra , V K , Cunningham , M , Leal , S M , Järvelä , I , Normand , E A , Zou , F , Helal , M , Keren , B , Torti , E , Chung , W K & Schrauwen , I 2022 , ' Delineating the genotypic and phenotypic spectrum of HECW2-related neurodevelopmental disorders ' , Journal of Medical Genetics , vol. 59 , pp. 669–677 . https://doi.org/10.1136/jmedgenet-2021-107871Test; ORCID: /0000-0002-1770-6187/work/127003138; e3ee1496-7280-490f-9cbe-b4337608689c; http://hdl.handle.net/10138/353339Test; 000728118500001
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2دورية أكاديمية
المؤلفون: Poquérusse, Jessie, Nolan, Melinda, Thorburn, David R., Van Hove, Johan L. K., Friederich, Marisa W., Love, Donald R., Taylor, Juliet, Powell, Christopher A., Minczuk, Michal, Snell, Russell G., Lehnert, Klaus, Glamuzina, Emma, Jacobsen, Jessie C.
المساهمون: Neurological Foundation of New Zealand, Royal Society of New Zealand
المصدر: JIMD Reports ; volume 64, issue 3, page 223-232 ; ISSN 2192-8312 2192-8312
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3دورية أكاديمية
المؤلفون: Al-Maraghi, Aljazi, Aamer, Waleed, Ziab, Mubarak, Aliyev, Elbay, Elbashir, Najwa, Hussein, Sura, Palaniswamy, Sasirekha, Anand, Dhullipala, Love, Donald R., Charles, Adrian, A.S.Akil, Ammira, Fakhro, Khalid A.
المصدر: BMC Nephrology; 4/22/2024, Vol. 25 Issue 1, p1-7, 7p
مصطلحات موضوعية: LITERATURE reviews, PROXIMAL kidney tubules, DYSGENESIS, WHOLE genome sequencing, RENIN-angiotensin system, RENAL tubular transport disorders
مصطلحات جغرافية: MIDDLE East
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4دورية أكاديمية
المؤلفون: Glass, Graeme E., Mohammedali, Shiyas, Sivakumar, Bran, Stotland, Mitchell A., Abdulkader, Faisal, Prosser, Debra O., Love, Donald R.
المساهمون: Sidra Medical and Research Center
المصدر: BMC Pediatrics ; volume 22, issue 1 ; ISSN 1471-2431
مصطلحات موضوعية: Pediatrics, Perinatology and Child Health
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5دورية أكاديمية
المؤلفون: Mohammed, Idris, Haris, Basma, Al-Barazenji, Tara, Vasudeva, Dhanya, Tomei, Sara, Al Azwani, Iman, Dauleh, Hajar, Shehzad, Saira, Chirayath, Shiga, Mohamadsalih, Ghassan, Petrovski, Goran, Khalifa, Amel, Love, Donald R., Al-Shafai, Mashael, Hussain, Khalid
المصدر: Journal of Clinical Endocrinology & Metabolism; Dec2023, Vol. 108 Issue 12, p3201-3213, 13p
مصطلحات موضوعية: CHILDHOOD obesity, MICROBIAL virulence
مصطلحات جغرافية: QATAR
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6دورية أكاديمية
المؤلفون: Acharya, Anushree, Kavus, Haluk, Dunn, Patrick, Nasir, Abdul, Folk, Leandra, Withrow, Kara, Wentzensen, Ingrid, M, Ruzhnikov, Maura, R Z, Fallot, Camille, Smol, Thomas, Rama, Mélanie, Brown, Kathleen, Whalen, Sandra, Ziegler, Alban, Barth, Magali, Chassevent, Anna, Smith-Hicks, Constance, Afenjar, Alexandra, Courtin, Thomas, Heide, Solveig, Font-Montgomery, Esperanza, Heid, Caleb, Hamm, J. Austin, Love, Donald, R, Thabet, Farouq, Misra, Vinod, K, Cunningham, Mitch, Leal, Suzanne, M, Jarvela, Irma, Normand, Elizabeth, A, Zou, Fanggeng, Helal, Mayada, Keren, Boris, Torti, Erin, Chung, Wendy, K, Schrauwen, Isabelle
المساهمون: Columbia University Medical Center (CUMC), Columbia University New York, The George Washington University (GW), University of Agriculture Faisalabad - UAF (PAKISTAN), GeneDx Gaithersburg, MD, USA, Stanford University, Centre Hospitalier Régional Universitaire CHU Lille (CHRU Lille), Maladies RAres du DEveloppement embryonnaire et du MEtabolisme : du Phénotype au Génotype et à la Fonction - ULR 7364 (RADEME), Université de Lille-Centre Hospitalier Régional Universitaire CHU Lille (CHRU Lille), Institut de génétique médicale, University of Colorado Anschutz Aurora, CHU Trousseau APHP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Sorbonne Université (SU), Centre Hospitalier Universitaire d'Angers (CHU Angers), PRES Université Nantes Angers Le Mans (UNAM), Kennedy Krieger Institute Baltimore, Johns Hopkins University School of Medicine Baltimore, CHU Pitié-Salpêtrière AP-HP, University of Missouri Columbia (Mizzou), University of Missouri System, Sidra Medicine Doha, Qatar, Children's Hospital of Michigan, Central Michigan University (CMU), Helsingin yliopisto = Helsingfors universitet = University of Helsinki
المصدر: ISSN: 0022-2593.
مصطلحات موضوعية: genetic variation, human genetics, neurology, phenotype, [SDV]Life Sciences [q-bio]
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/34321324; hal-03998194; https://hal.science/hal-03998194Test; https://hal.science/hal-03998194/documentTest; https://hal.science/hal-03998194/file/HECW2_main_Tables_updated.pdfTest; PUBMED: 34321324
الإتاحة: https://doi.org/10.1136/jmedgenet-2021-107871Test
https://hal.science/hal-03998194Test
https://hal.science/hal-03998194/documentTest
https://hal.science/hal-03998194/file/HECW2_main_Tables_updated.pdfTest -
7دورية أكاديمية
المؤلفون: Guennoun, Andrea, Bougarn, Salim, Khan, Taushif, Mackeh, Rafah, Rahman, Mahbuba, Al-Ali, Fatima, Ata, Manar, Aamer, Waleed, Prosser, Debra, Habib, Tanwir, Chin-Smith, Evonne, Al-Darwish, Khawla, Zhang, Qian, Al-Shakaki, Alya, Robay, Amal, Crystal, Ronald G., Fakhro, Khalid, Al-Naimi, Amal, Al Maslamani, Eman, Tuffaha, Amjad, Janahi, Ibrahim, Janahi, Mohammad, Love, Donald R., Karim, Mohammed Yousuf, Lo, Bernice, Hassan, Amel, Adeli, Mehdi, Marr, Nico
المساهمون: Qatar National Research Fund, Sidra Medical and Research Center
المصدر: Journal of Clinical Immunology ; volume 41, issue 8, page 1839-1852 ; ISSN 0271-9142 1573-2592
مصطلحات موضوعية: Immunology, Immunology and Allergy
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8دورية أكاديمية
المؤلفون: Lahrouchi, Najim, Raju, Hariharan, Lodder, Elisabeth M, Papatheodorou, Stathis, Miles, Chris, Ware, James S, Papadakis, Michael, Tadros, Rafik, Cole, Della, Skinner, Jonathan R, Crawford, Jackie, Love, Donald R, Pua, Chee J, Soh, Bee Y, Bhalshankar, Jaydutt D, Govind, Risha, Tfelt-Hansen, Jacob, Winkel, Bo G, van der Werf, Christian, Wijeyeratne, Yanushi D, Mellor, Greg, Till, Janice, Cohen, Marta, Tome-Esteban, Maria, Sharma, Sanjay, Wilde, Arthur A M, Cook, Stuart A, Sheppard, Mary N, Bezzina, Connie R, Behr, Elijah R
المصدر: Lahrouchi , N , Raju , H , Lodder , E M , Papatheodorou , S , Miles , C , Ware , J S , Papadakis , M , Tadros , R , Cole , D , Skinner , J R , Crawford , J , Love , D R , Pua , C J , Soh , B Y , Bhalshankar , J D , Govind , R , Tfelt-Hansen , J , Winkel , B G , van der Werf , C , Wijeyeratne , Y D , Mellor , G , Till , J , ....
الإتاحة: https://doi.org/10.1038/s41431-019-0500-8Test
https://curis.ku.dk/portal/da/publications/the-yield-of-postmortem-genetic-testing-in-sudden-death-cases-with-structural-findings-at-autopsyTest(60d236a4-0fa1-40f5-af90-ef78f0d017f1).html
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6906523/pdf/41431_2019_Article_500.pdfTest
http://europepmc.org/articles/pmc6906523?pdf=renderTest -
9دورية أكاديمية
المؤلفون: Mohammed, Idris, Al‐Khawaga, Sara, Bohanna, David, Shabani, Abdusamea, Khan, Faiyaz, Love, Donald R., Nawaz, Zafar, Hussain, Khalid
المساهمون: Qatar National Library
المصدر: Molecular Genetics & Genomic Medicine ; volume 8, issue 6 ; ISSN 2324-9269 2324-9269
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10دورية أكاديمية
المؤلفون: Raju, Hariharan, Ware, James S., Skinner, Jonathan R., Hedley, Paula L., Arno, Gavin, Love, Donald R., Van Der Werf, Christian, Tfelt-hansen, Jacob, Winkel, Bo Gregers, Cohen, Marta C., Li, Xinzhong, John, Shibu, Sharma, Sanjay, Jeffery, Steve, Wilde, Arthur A. M., Christiansen, Michael, Sheppard, Mary N., Behr, Elijah R.
المصدر: Raju , H , Ware , J S , Skinner , J R , Hedley , P L , Arno , G , Love , D R , Van Der Werf , C , Tfelt-hansen , J , Winkel , B G , Cohen , M C , Li , X , John , S , Sharma , S , Jeffery , S , Wilde , A A M , Christiansen , M , Sheppard , M N & Behr , E R 2019 , ' Next-generation sequencing using microfluidic PCR enrichment for molecular autopsy ' , BMC Cardiovascular ....
وصف الملف: application/pdf
الإتاحة: https://doi.org/10.1186/s12872-019-1154-8Test
https://research.tees.ac.uk/en/publications/77058dfb-c276-42fc-a57f-a2d628b3d012Test
https://research.tees.ac.uk/ws/files/8026193/Next_generation_sequencing.pdfTest
http://www.scopus.com/inward/record.url?scp=85069766613&partnerID=8YFLogxKTest