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1دورية أكاديمية
المؤلفون: Tingting Zhao, Shengnan Wu, Yiping Shen, Jing Leng, Georgi Z. Genchev, Hui Lu, Jincai Feng
المصدر: Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-10 (2024)
مصطلحات موضوعية: Pitt–Hopkins syndrome, TCF4, Genotype, Phenotype, Developmental delay, Intellectual disability, Medicine
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/1750-1172Test
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2دورية أكاديمية
المصدر: Journal of Clinical Medicine, Vol 13, Iss 9, p 2605 (2024)
مصطلحات موضوعية: Pitt–Hopkins syndrome, rare diseases, quality of life, disability, Medicine
وصف الملف: electronic resource
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3دورية أكاديمية
المؤلفون: Hyojin Kim, Eric B Gao, Adam Draper, Noah C Berens, Hanna Vihma, Xinyuan Zhang, Alexandra Higashi-Howard, Kimberly D Ritola, Jeremy M Simon, Andrew J Kennedy, Benjamin D Philpot
المصدر: eLife, Vol 11 (2022)
مصطلحات موضوعية: gene therapy, neurodevelopmental disorder, Pitt-Hopkins syndrome, Medicine, Science, Biology (General), QH301-705.5
وصف الملف: electronic resource
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4دورية أكاديمية
المؤلفون: Wandin, Helena, Starbrink, Magnus, Dolik-Michno, Monika, Johnels, Linn
مصطلحات موضوعية: Medicine and Health Sciences, Education, Social and Behavioral Sciences, Pitt Hopkins Syndrome
العلاقة: https://osf.io/vcw6mTest
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5دورية أكاديمية
المؤلفون: Dennys, Cassandra N, Vermudez, Sheryl Anne D, Deacon, Robert J M, Sierra-Delgado, J Andrea, Rich, Kelly, Zhang, Xiaojin, Buch, Aditi, Weiss, Kelly, Moxley, Yuta, Rajpal, Hemangi, Espinoza, Francisca D, Powers, Samantha, Ávila, Ariel S, Gogliotti, Rocco G, Cogram, Patricia, Niswender, Colleen M, Meyer, Kathrin C
المصدر: Neurotherapeutics ; ISSN:1878-7479
مصطلحات موضوعية: AAV gene therapy, Mecp2, Pitt Hopkins syndrome, TCF4
العلاقة: https://doi.org/10.1016/j.neurot.2024.e00376Test; https://pubmed.ncbi.nlm.nih.gov/38876822Test
الإتاحة: https://doi.org/10.1016/j.neurot.2024.e00376Test
https://pubmed.ncbi.nlm.nih.gov/38876822Test -
6دورية أكاديمية
المؤلفون: Sawsan AlBaazi, Hula Shareef
المصدر: Egyptian Journal of Medical Human Genetics, Vol 21, Iss 1, Pp 1-5 (2020)
مصطلحات موضوعية: Pitt-Hopkins syndrome, PHS, Pitt-Hopkins-like syndrome intellectual deficit, Epilepsy, Facial dysmorphism, Cupid bow, Medicine (General), R5-920, Genetics, QH426-470
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/2090-2441Test
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7دورية أكاديمية
المؤلفون: Popp, Bernt, Bienvenu, Thierry, Giurgea, Irina, Metreau, Julia, Kraus, Cornelia, Reis, André, Fischer, Jan, Bralo, María Palomares, Tenorio-Castaño, Jair, Lapunzina, Pablo, Almoguera, Berta, Lopez-Grondona, Fermina, Sticht, Heinrich, Zweier, Christiane
المساهمون: Leipzig University / Universität Leipzig, Charité - UniversitätsMedizin = Charité - University Hospital Berlin, Institut de psychiatrie et neurosciences de Paris (IPNP - U1266 Inserm), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Cité (UPCité), Maladies génétiques d'expression pédiatrique (U933), Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Trousseau APHP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), CHU Trousseau APHP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Hôpital Bicêtre AP-HP, Le Kremlin-Bicêtre, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Friedrich-Alexander Universität Erlangen-Nürnberg = University of Erlangen-Nuremberg (FAU), University Hospital Carl Gustav Carus Dresden, Germany, Technische Universität Dresden = Dresden University of Technology (TU Dresden), Hospital Universitario La Paz, Centro Nacional de Microbiología ISCIII, Madrid, Spain (CNM), Instituto de Salud Carlos III Madrid (ISC), Inselspital Bern, Universität Bern / University of Bern (UNIBE)
المصدر: ISSN: 0009-9163.
مصطلحات موضوعية: PTHS, Pitt-Hopkins syndrome, TCF4, intellectual disability, missense variant, neurodevelopmental disorder, MESH: Humans, MESH: Intellectual Disability, MESH: Transcription Factor 4, MESH: Facies, MESH: Hyperventilation, MESH: Epilepsy, [SDV.NEU.NB]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]/Neurobiology, [SDV]Life Sciences [q-bio], [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/35908153; inserm-03874919; https://inserm.hal.science/inserm-03874919Test; https://inserm.hal.science/inserm-03874919/documentTest; https://inserm.hal.science/inserm-03874919/file/Clinical%20Genetics%20-%202022%20-%20Popp.pdfTest; PUBMED: 35908153; WOS: 000841006400001
الإتاحة: https://doi.org/10.1111/cge.14206Test
https://inserm.hal.science/inserm-03874919Test
https://inserm.hal.science/inserm-03874919/documentTest
https://inserm.hal.science/inserm-03874919/file/Clinical%20Genetics%20-%202022%20-%20Popp.pdfTest -
8
المؤلفون: Tingting Zhao, Shengnan Wu, Yiping Shen, Jing Leng, Georgi Z. Genchev, Hui Lu, Jincai Feng
مصطلحات موضوعية: Genetics, Pitt–Hopkins syndrome, TCF4, Genotype, Phenotype, Developmental delay, Intellectual disability
الإتاحة: https://doi.org/10.6084/m9.figshare.25194785.v1Test
https://figshare.com/articles/dataset/Additional_file_1_of_Clinical_and_genetic_characterization_of_47_Chinese_pediatric_patients_with_Pitt_Hopkins_syndrome_a_retrospective_study/25194785Test -
9دورية أكاديمية
المؤلفون: Alice Watkins, Stacey Bissell, Jo Moss, Chris Oliver, Jill Clayton-Smith, Lorraine Haye, Mary Heald, Alice Welham
المصدر: Journal of Neurodevelopmental Disorders, Vol 11, Iss 1, Pp 1-15 (2019)
مصطلحات موضوعية: Angelman syndrome, Autism spectrum disorder, Behavioural phenotype, Cornelia de Lange syndrome, Pitt-Hopkins syndrome, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571
وصف الملف: electronic resource
العلاقة: http://link.springer.com/article/10.1186/s11689-019-9282-0Test; https://doaj.org/toc/1866-1947Test; https://doaj.org/toc/1866-1955Test
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10دورية أكاديمية
المؤلفون: Chisen Takeuchi, Hironao Numabe, Masayuki Imai, Susumu Sugihara, Toshiyuki Yamamoto, 今井 祐之, 山本 俊至, 杉原 進, 沼部 博直, 竹内 千仙
المصدر: 脳と発達 / NO TO HATTATSU. 2022, 54(5):352
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