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1دورية أكاديمية
المؤلفون: Katie Kerr, Caoimhe McKenna, Shirley Heggarty, Caitlin Bailie, Julie McMullan, Ashleen Crowe, Jill Kilner, Michael Donnelly, Saralynne Boyle, Gillian Rea, Cheryl Flanagan, Shane McKee, Amy Jayne McKnight
المصدر: Genes, Vol 13, Iss 7, p 1104 (2022)
مصطلحات موضوعية: genomics, rare disease, collaboration, public health, multiomics, Genetics, QH426-470
وصف الملف: electronic resource
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2دورية أكاديمية
المؤلفون: Richard E Jones, Daniel J Hammersley, Sean Zheng, Kathryn A McGurk, Antonio de Marvao, Pantazis I Theotokis, Ruth Owen, Upasana Tayal, Gillian Rea, Suzan Hatipoglu, Rachel J Buchan, Lukas Mach, Lara Curran, Amrit S Lota, François Simard, Rohin K Reddy, Suprateeka Talukder, Won Young Yoon, Ali Vazir, Dudley J Pennell, Declan P O'Regan, A John Baksi, Brian P Halliday, James S Ware, Sanjay K Prasad
مصطلحات موضوعية: Health sciences, Cardiovascular magnetic resonance, Coronary artery disease, Dilated cardiomyopathy, Rare pathogenic genetic variants, 1102 Cardiorespiratory Medicine and Haematology, Cardiovascular System & Hematology, 3201 Cardiovascular medicine and haematology
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المؤلفون: Elizabeth E. Palmer, Michael Pusch, Alessandra Picollo, Caitlin Forwood, Matthew H. Nguyen, Vanessa Suckow, Jessica Gibbons, Alva Hoff, Lisa Sigfrid, Andre Megarbane, Mathilde Nizon, Benjamin Cogné, Claire Beneteau, Fowzan S. Alkuraya, Aziza Chedrawi, Mais O. Hashem, Hannah Stamberger, Sarah Weckhuysen, Arnaud Vanlander, Berten Ceulemans, Sulekha Rajagopalan, Kenneth Nunn, Stéphanie Arpin, Martine Raynaud, Constance S. Motter, Catherine Ward-Melver, Katrien Janssens, Marije Meuwissen, Diane Beysen, Nicola Dikow, Mona Grimmel, Tobias B. Haack, Emma Clement, Amy McTague, David Hunt, Sharron Townshend, Michelle Ward, Linda J. Richards, Cas Simons, Gregory Costain, Lucie Dupuis, Roberto Mendoza-Londono, Tracy Dudding-Byth, Jackie Boyle, Carol Saunders, Emily Fleming, Salima El Chehadeh, Marie-Aude Spitz, Amelie Piton, Bénédicte Gerard, Marie-Thérèse Abi Warde, Gillian Rea, Caoimhe McKenna, Sofia Douzgou, Siddharth Banka, Cigdem Akman, Jennifer M. Bain, Tristan T. Sands, Golder N. Wilson, Erin J. Silvertooth, Lauren Miller, Damien Lederer, Rani Sachdev, Rebecca Macintosh, Olivier Monestier, Deniz Karadurmus, Felicity Collins, Melissa Carter, Luis Rohena, Marjolein H. Willemsen, Charlotte W. Ockeloen, Rolph Pfundt, Sanne D. Kroft, Michael Field, Francisco E. R. Laranjeira, Ana M. Fortuna, Ana R. Soares, Vincent Michaud, Sophie Naudion, Sailaja Golla, David D. Weaver, Lynne M. Bird, Jennifer Friedman, Virginia Clowes, Shelagh Joss, Laura Pölsler, Philippe M. Campeau, Maria Blazo, Emilia K. Bijlsma, Jill A. Rosenfeld, Christian Beetz, Zöe Powis, Kirsty McWalter, Tracy Brandt, Erin Torti, Mikaël Mathot, Shekeeb S. Mohammad, Ruth Armstrong, Vera M. Kalscheuer
المساهمون: UCL - SSS/IREC/MONT - Pôle Mont Godinne, UCL - (MGD) Service de pédiatrie, Growth and Development, Pediatrics, Centre for Medical Genetics, Brussels Heritage Lab, Medical Genetics
المصدر: Molecular Psychiatry, 28, 668-697
Molecular psychiatry, Vol. 28, no. 2, p. 668-697 (2022)
Molecular psychiatry
Molecular Psychiatry
MOLECULAR PSYCHIATRY
CLCN4 concortium 2023, ' Functional and clinical studies reveal pathophysiological complexity of CLCN4-related neurodevelopmental condition ', Molecular psychiatry, vol. 28, no. 2, pp. 668-697 . https://doi.org/10.1038/s41380-022-01852-9Test
Molecular Psychiatry, 28, 2, pp. 668-697
Molecular Psychiatry, 28, 668-697. SPRINGERNATUREمصطلحات موضوعية: Male, DISRUPTION, Chloride Channels/genetics, EXCHANGER, Mutation, Missense, LYSOSOMAL STORAGE DISEASE, VARIANTS, Neurodevelopmental Disorders/genetics, PHENOTYPE, Cellular and Molecular Neuroscience, All institutes and research themes of the Radboud University Medical Center, Genes, X-Linked, CLC CHLORIDE, Medicine and Health Sciences, Humans, Molecular Biology, MUTATION, Biology, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], CHANNELS, LINKED MENTAL-RETARDATION, ASSOCIATION, GENE, Psychiatry and Mental health, Chemistry, Female, Human medicine
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::39edfb04a13ae9bc854e89ef1416ed62Test
http://hdl.handle.net/2066/290784Test -
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المؤلفون: Sahar Mansour, Sarah F. Smithson, Gillian Rea, Anna Zachariou, Philip J. Ostrowski, Edward Blair, Alison Foster, Sofia Douzgou, Katrina Tatton-Brown, Trevor Cole, Chey Loveday, Elizabeth Thompson, Swati Naik, Diana Baralle, Katherine Lachlan, Michael Field, Claire Kyle, Yves Sznajer
المصدر: American Journal of Medical Genetics Part C: Seminars in Medical Genetics. 181:638-643
مصطلحات موضوعية: Male, 0301 basic medicine, Joint hypermobility, Pediatrics, medicine.medical_specialty, Adolescent, Context (language use), 030105 genetics & heredity, Severity of Illness Index, 03 medical and health sciences, Intellectual Disability, Intellectual disability, Genetics, medicine, Humans, Prognathism, Obesity, Child, Genetics (clinical), business.industry, Macrocephaly, Genetic Diseases, X-Linked, Syndrome, medicine.disease, Megalencephaly, Chin, 030104 developmental biology, medicine.anatomical_structure, Neonatal hypotonia, medicine.symptom, Differential diagnosis, business, Gene Deletion, Transcription Factors
وصف الملف: text
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dfe7c413c5068e2840f8f3aeeba30517Test
https://doi.org/10.1002/ajmg.c.31750Test -
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المؤلفون: David A. Parry, Carol-Anne Martin, Philip Greene, Joseph A. Marsh, J.C. Ambrose, P. Arumugam, E.L. Baple, M. Bleda, F. Boardman-Pretty, J.M. Boissiere, C.R. Boustred, H. Brittain, M.J. Caulfield, G.C. Chan, C.E.H. Craig, L.C. Daugherty, A. de Burca, A. Devereau, G. Elgar, R.E. Foulger, T. Fowler, P. Furió-Tarí, A. Giess, J.M. Hackett, D. Halai, A. Hamblin, S. Henderson, J.E. Holman, T.J.P. Hubbard, K. Ibáñez, R. Jackson, L.J. Jones, D. Kasperaviciute, M. Kayikci, A. Kousathanas, L. Lahnstein, K. Lawson, S.E.A. Leigh, I.U.S. Leong, F.J. Lopez, F. Maleady-Crowe, J. Mason, E.M. McDonagh, L. Moutsianas, M. Mueller, N. Murugaesu, A.C. Need, C.A. Odhams, A. Orioli, C. Patch, D. Perez-Gil, M.B. Pereira, D. Polychronopoulos, J. Pullinger, T. Rahim, A. Rendon, P. Riesgo-Ferreiro, T. Rogers, M. Ryten, K. Savage, K. Sawant, R.H. Scott, A. Siddiq, A. Sieghart, D. Smedley, K.R. Smith, S.C. Smith, A. Sosinsky, W. Spooner, H.E. Stevens, A. Stuckey, R. Sultana, M. Tanguy, E.R.A. Thomas, S.R. Thompson, C. Tregidgo, A. Tucci, E. Walsh, S.A. Watters, M.J. Welland, E. Williams, K. Witkowska, S.M. Wood, M. Zarowiecki, Moira Blyth, Helen Cox, Deirdre Donnelly, Lynn Greenhalgh, Stephanie Greville-Heygate, Victoria Harrison, Katherine Lachlan, Caoimhe McKenna, Alan J. Quigley, Gillian Rea, Lisa Robertson, Mohnish Suri, Andrew P. Jackson
المصدر: Genetics in Medicine
Blyth, M, Cox, H, Donnelly, D E, Greenhalgh, L, Greville-Heygate, S, Harrison, V, Lachlan, K, McKenna, C, Quigley, A, Rea, G, Robertson, L & Suri, M & Jackson, A P 2020, ' Heterozygous Lamin B1 and Lamin B2 Variants cause Primary Microcephaly and Define a Novel Laminopathy ', Genetics in Medicine, vol. 23, no. 2, pp. 408–414 . https://doi.org/10.1038/s41436-020-00980-3Testمصطلحات موضوعية: 0301 basic medicine, Microcephaly, Laminopathy, laminopathy, Biology, Brief Communication, Genome, 03 medical and health sciences, 0302 clinical medicine, medicine, Humans, Exome, Genetics (clinical), Genetics, Progeria, Lamin Type B, primary microcephaly, Laminopathies, medicine.disease, Phenotype, neurodevelopmental disorder, 030104 developmental biology, LMNB1, LMNB2, Nuclear lamina, 030217 neurology & neurosurgery, Lamin
وصف الملف: text; application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b7c3afeb46142409f18e86e168fe778aTest
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المؤلفون: Abdalla Bowirrat, Henry Houlden, Zul Qarnain, Miryam Carecchio, Shahnaz Ibrahim, Andrew J. Lees, Bettina Balint, Salman Kirmani, Luisa Chiapparini, Vincenzo Salpietro, Gillian Rea, Fatima Khan, Stanislav Groppa, Stephanie Efthymiou, Jana Vandrovcova, Nicholas W. Wood, Kailash P. Bhatia, Patrick J. Morrison, Ettore Salsano, Farida Jan, Lucia Schottlaender, Viorica Chelban, Barbara Garavaglia, Nin Ps Bajaj, Luca Magistrelli, Davide Pareyson
المصدر: Neurology: Genetics
مصطلحات موضوعية: Pathology, medicine.medical_specialty, PDGFRB, Disease, Article, 03 medical and health sciences, 0302 clinical medicine, Neuroimaging, Medicine, Cognitive decline, Family history, Genetics (clinical), 030304 developmental biology, 0303 health sciences, Palsy, business.industry, Parkinsonism, medicine.disease, 3. Good health, Neurology (clinical), business, 030217 neurology & neurosurgery, Calcification
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e96236b80c34f340bcedefc358c8b84bTest
http://hdl.handle.net/11567/1027127Test -
7Infantile Onset of Spinocerebellar Ataxia Type 5 (SCA-5) in a 6 Month Old with Ataxic Cerebral Palsy
المصدر: Rea, G, Tirupathi, S, Williams, J, Clouston, P & Morrison, P J 2019, ' Infantile Onset of Spinocerebellar Ataxia Type 5 (SCA-5) in a 6 Month Old with Ataxic Cerebral Palsy ', Cerebellum (London, England) . https://doi.org/10.1007/s12311-019-01085-7Test
Cerebellum (London, England)مصطلحات موضوعية: Male, medicine.medical_specialty, Pediatrics, Neurology, Ataxia, Ataxic cerebral palsy, 050105 experimental psychology, Cerebral palsy, 03 medical and health sciences, 0302 clinical medicine, Short Reports, medicine, Humans, Spinocerebellar Ataxias, 0501 psychology and cognitive sciences, Spinocerebellar ataxia type 5, Spinocerebellar Degenerations, Early onset, business.industry, Cerebral Palsy, 05 social sciences, Genetic Diseases, Inborn, Peripheral Nervous System Diseases, Infant, medicine.disease, Optic Atrophy, Spinocerebellar ataxia, Neurology (clinical), Infantile onset, medicine.symptom, business, 030217 neurology & neurosurgery
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0c20f88572d51800eee254e50beb67a9Test
https://pubmed.ncbi.nlm.nih.gov/33188499Test -
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المؤلفون: Gillian Rea, Shilpa Shah, Sarah Berry, Laura Bingham
المصدر: Archives of disease in childhood - Education & practice edition. 105:94-96
مصطلحات موضوعية: Male, medicine.medical_specialty, Beckwith-Wiedemann Syndrome, 03 medical and health sciences, 0302 clinical medicine, 030225 pediatrics, medicine, Macroglossia, Humans, Perlman syndrome, biology, Sotos syndrome, business.industry, C-reactive protein, Infant, medicine.disease, Leg Length Inequality, Surgery, Venous thrombosis, medicine.anatomical_structure, Cellulitis, Pediatrics, Perinatology and Child Health, Circulatory system, biology.protein, Eyelid, medicine.symptom, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7132f90e101bb1d8235ef49553362876Test
https://doi.org/10.1136/archdischild-2018-315527Test -
9كتاب إلكتروني
المؤلفون: Gillian Rea, Jennifer Proudfoot
نوع المادة: eBook.
تصنيفات: SCIENCE / Earth Sciences / Geography
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المؤلفون: Sinead Enright, Gillian Rea, A Karen Humphrys, Jacqueline James
المصدر: Dental Update. 42:927-932
مصطلحات موضوعية: Cuspid, medicine.medical_specialty, Pediatrics, Taurodontism, Hearing loss, Hearing Loss, Sensorineural, Chromosome Disorders, Audiology, stomatognathic system, Dental disorder, Oral and maxillofacial pathology, medicine, Humans, Tooth Root, Tooth, Deciduous, Child, Dental Enamel, General Dentistry, Patient Care Team, Tooth Crown, Tooth Abnormalities, business.industry, Chromosomes, Human, Pair 11, Otodental syndrome, medicine.disease, Molar, Coloboma, Incisor, stomatognathic diseases, Hypodontia, Medical genetics, Female, Sensorineural hearing loss, Chromosome Deletion, medicine.symptom, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e3ea71471709b5778c4ba4ca91949143Test
https://doi.org/10.12968/denu.2015.42.10.927Test