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1دورية أكاديمية
المؤلفون: Yeung, AlisonAff1, Aff2, Aff3, Tan, Natalie B., Tan, Tiong Y.Aff1, Aff2, Aff3, Stark, ZornitzaAff1, Aff2, Aff3, Brown, NatashaAff1, Aff3, Hunter, Matthew F.Aff4, Aff5, Delatycki, MartinAff1, Aff3, Stutterd, ChloeAff1, Aff3, Savarirayan, RaviAff1, Aff3, Mcgillivray, George, Stapleton, Rachel, Kumble, Smitha, Downie, LilianAff1, Aff3, Regan, MatthewAff4, Aff5, Lunke, Sebastian, Chong, Belinda, Phelan, Dean, Brett, Gemma R.Aff1, Aff2, Aff3, Jarmolowicz, AnnaAff1, Aff2, Prawer, YaelAff2, Aff4, Aff5, Valente, GiuliaAff2, Aff6, Smagarinsky, YanaAff1, Aff2, Martyn, MelissaAff2, Aff3, Aff7, McEwan, Callum, Goranitis, IliasAff7, Aff8, Aff9, Gaff, ClaraAff2, Aff3, Aff7, White, Susan M.Aff1, Aff2, Aff3
المصدر: Genetics in Medicine: Official journal of the American College of Medical Genetics and Genomics. 22(12):1986-1993
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2دورية أكاديمية
المؤلفون: Deuis, Jennifer R, Kumble, Smitha, Keramidas, Angelo, Ragnarsson, Lotten, Simons, Cas, Pais, Lynn, White, Susan M, Vetter, Irina
المصدر: Human Molecular Genetics; 1/15/2024, Vol. 33 Issue 2, p103-109, 7p
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3دورية أكاديمية
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4دورية أكاديمية
المؤلفون: Hosking, Laine M., Bannister, Elizabeth G., Cook, Matthew C., Choo, Sharon, Kumble, Smitha, Cole, Theresa S.
المصدر: Journal of Clinical Immunology. :1-3
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5دورية أكاديمية
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6مورد إلكتروني
المؤلفون: Kumble, Smitha
المصدر: Kumble , S & Undiagnosed Diseases Network 2022 , ' The clinical and molecular spectrum of QRICH1 associated neurodevelopmental disorder ' , Human Mutation , vol. 43 , no. 2 , pp. 266-282 .
مصطلحات الفهرس: hypotonia, intellectual disability, QRICH1, short stature, variable expressivity, variant, article
URL:
https://curis.ku.dk/portal/da/publications/the-clinical-and-molecular-spectrum-of-qrich1-associated-neurodevelopmental-disorder(6884be2d-cb26-4b10-b3a9-779a476c8cb5).html https://doi.org/10.1002/humu.24308 https://curis.ku.dk/ws/files/305536781/LINI_humu.24308.pdf -
7دورية أكاديمية
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8
المؤلفون: Kumble, Smitha, Levy, Amanda, Punetha, Jaya, Gao, Hua, Ah Mew, Nicholas, Anyane-Yeboa, Kwame, Benke, Paul, Berger, Sara, Bjerglund, Lise, Campos-Xavier, Belinda, Ciliberto, Michael, Cohen, Julie, Comi, Anne, Curry, Cynthia, Damaj, Lena, Denommé-Pichon, Anne-Sophie, Emrick, Lisa, Faivre, Laurence, Fasano, Mary Beth, Fiévet, Alice, Finkel, Richard, García-Miñaúr, Sixto, Gerard, Amanda, Gomez-Puertas, Paulino, Guillen Sacoto, Maria, Hoffman, Trevor, Howard, Lillian, Iglesias, Alejandro, Izumi, Kosuke, Larson, Austin, Leiber, Anja, Lozano, Reymundo, Marcos-Alcalde, Iñigo, Mintz, Cassie, Mullegama, Sureni, Møller, Rikke, Odent, Sylvie, Oppermann, Henry, Ostergaard, Elsebet, Pacio-Míguez, Marta, Palomares-Bralo, Maria, Parikh, Sumit, Paulson, Anna, Platzer, Konrad, Posey, Jennifer, Potocki, Lorraine, Revah-Politi, Anya, Rio, Marlene, Ritter, Alyssa, Robinson, Scott, Rosenfeld, Jill, Santos-Simarro, Fernando, Anyane‐Yeboa, Kwame, Campos‐Xavier, Belinda, Denommé‐Pichon, Anne‐Sophie, García‐Miñaúr, Sixto, Gomez‐Puertas, Paulino, Marcos‐Alcalde, Iñigo, Pacio‐Míguez, Marta, Palomares‐Bralo, Maria, Revah‐Politi, Anya, Santos‐Simarro, Fernando, Sombra, Sérgio Sousa, Wéber, Mathys, Xie, Yili, Chung, Wendy K., Brown, Natasha, Tümer, Zeynep
المساهمون: Murdoch Children's Research Institute (MCRI), Copenhagen University Hospital, Baylor College of Medicine (BCM), Baylor University, Icahn School of Medicine at Mount Sinai [New York] (MSSM), CHU Pontchaillou [Rennes], Université Bourgogne Franche-Comté [COMUE] (UBFC), Lipides - Nutrition - Cancer [Dijon - U1231] (LNC), Université de Bourgogne (UB)-Institut National de la Santé et de la Recherche Médicale (INSERM)-AgroSup Dijon - Institut National Supérieur des Sciences Agronomiques, de l'Alimentation et de l'Environnement, Centre Hospitalier Universitaire de Dijon - Hôpital François Mitterrand (CHU Dijon), Centre de génétique - Centre de référence des maladies rares, anomalies du développement et syndromes malformatifs (CHU de Dijon), Institut Gustave Roussy (IGR), Institut de Génétique et Développement de Rennes (IGDR), Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique )-Centre National de la Recherche Scientifique (CNRS)-Université de Rennes 1 (UR1), Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES), Centre de référence Maladies Rares CLAD-Ouest [Rennes], CIBER de Enfermedades Raras (CIBERER), GeneDx [Gaithersburg, MD, USA], Columbia University Irving Medical Center (CUIMC), University of Melbourne, University of Copenhagen = Københavns Universitet (KU), Spanish Ministry of Science / State Research Agency projects. Grant Numbers: DTS20-00024, RTC-2017-6494-1, RTI2018-094434-B-I00 SFARI and JPB Foundation, Raregenomics network, financed by the Consejería de Educación de la C. de Madrid. Grant Number: S2017 / BMD-3721, European Comission JPIAMR projects CONNECT and AEPIC, National Center for Advancing Translational Sciences, National Institutes of Health. Grant Number: UL1TR001873, National Human Genome Research Institute (NHGRI) and National Heart, Lung, and Blood Institute (NHLBI). Grant Number: UM1 HG006542 Undiagnosed Diseases Network, European Social Fund, Rashid Family Fund, NIH Common Fund, through the Office of Strategic Coordination/Office of the NIH Director. Grant Number: U01HG007709, ISCIII, Ministerio de Ciencia e Innovación. Grant Number: PI19/01681, Baylor Hopkins Center for Mendelian Genomics. Grant Numbers: NHGRI K08 HG008986, NHGRI/NLHBI UM1 HG006542, Centro Portugal Regional Operational Programme (CENTRO 2020), under the Portugal 2020 Partnership Agreement, through the European Regional Development Fund (ERDF). Grant Number: CENTRO-01-0247-FEDER-017800, Département de biologie et pathologie médicales [Gustave Roussy], Université de Rennes (UR)-Centre National de la Recherche Scientifique (CNRS)-Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique ), University of Copenhagen = Københavns Universitet (UCPH)
المصدر: Human Mutation
Human Mutation, Wiley, 2021, ⟨10.1002/humu.24308⟩
Kumble, S & Undiagnosed Diseases Network 2022, ' The clinical and molecular spectrum of QRICH1 associated neurodevelopmental disorder ', Human Mutation, vol. 43, no. 2, pp. 266-282 . https://doi.org/10.1002/humu.24308
Tümer, Z & Undiagnosed Diseases Network 2022, ' The clinical and molecular spectrum of QRICH1 associated neurodevelopmental disorder ', Human Mutation, vol. 43, no. 2, pp. 266-282 . https://doi.org/10.1002/humu.24308
Human Mutation, 2022, 43 (2), pp.266-282. ⟨10.1002/humu.24308⟩
DDFV. Repositorio Institucional de la Universidad Francisco de Vitoria
instnameمصطلحات موضوعية: Autism Spectrum Disorder, [SDV]Life Sciences [q-bio], Dwarfism, Biology, Bioinformatics, Weight Gain, Short stature, 03 medical and health sciences, 0302 clinical medicine, Neurodevelopmental disorder, Neuroimaging, Seizures, variable expressivity, Intellectual disability, Genetics, medicine, Missense mutation, Humans, QRICH1, hypotonia, Genetics (clinical), 030304 developmental biology, 0303 health sciences, medicine.disease, Hypotonia, short stature, Scoliosis, variant, Autism spectrum disorder, Neurodevelopmental Disorders, intellectual disability, Muscle Hypotonia, medicine.symptom, 030217 neurology & neurosurgery
وصف الملف: application/pdf
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9دورية أكاديمية
لا يتم عرض هذه النتيجة على الضيوف.
تسجيل الدخول للوصول الكامل. -
10دورية أكاديمية
لا يتم عرض هذه النتيجة على الضيوف.
تسجيل الدخول للوصول الكامل.