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

الإتاحة: http://hdl.handle.net/10138/353339Test

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

الإتاحة: https://doi.org/10.1002/jmd2.12360Test

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

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

الإتاحة: https://doi.org/10.1186/s12887-022-03803-3Test

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

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

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

الإتاحة: https://doi.org/10.1007/s10875-021-01115-2Test

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

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

الإتاحة: https://doi.org/10.1002/mgg3.1086Test

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