-
11
المؤلفون: Adam J. Kundishora, Benjamin C. Reeves, Andres Moreno-De-Luca, Christopher S. Hong, Stephanie M. Robert, Aladine A. Elsamadicy, Dominick Tuason, Michael L. DiLuna
المصدر: Journal of Neurosurgery: Case Lessons. 5
مصطلحات موضوعية: General Medicine
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::08e48023e422124c00714ae8e749dc4dTest
https://doi.org/10.3171/case22481Test -
12
المؤلفون: Afshin Saffari, Tracy Lau, Homa Tajsharghi, Ehsan Ghayoor Karimiani, Ariana Kariminejad, Stephanie Efthymiou, Giovanni Zifarelli, Tipu Sultan, Mehran Beiraghi Toosi, Sahar Sedighzadeh, Victoria Mok Siu, Juan Darío Ortigoza-Escobar, Aisha M AlShamsi, Shahnaz Ibrahim, Nouriya Abbas Al-Sannaa, Walla Al-Hertani, Whalen Sandra, Mark Tarnopolsky, Shahryar Alavi, Chumei Li, Debra-Lynn Day-Salvatore, Maria Jesús Martínez-González, Kristin M Levandoski, Emma Bedoukian, Suneeta Madan-Khetarpal, Michaela J Idleburg, Minal Juliet Menezes, Aishwarya Siddharth, Konrad Platzer, Henry Oppermann, Martin Smitka, Felicity Collins, Monkol Lek, Mohmmad Shahrooei, Maryam Ghavideldarestani, Isabella Herman, John Rendu, Julien Faure, Janice Baker, Vikas Bhambhani, Laurel Calderwood, Javad Akhondian, Shima Imannezhad, Hanieh Sadat Mirzadeh, Narges Hashemi, Mohammad Doosti, Mojtaba Safi, Najmeh Ahangari, Paria Najarzadeh Torbati, Soheila Abedini, Vincenzo Salpietro, Elif Yilmaz Gulec, Safieh Eshaghian, Mohammadreza Ghazavi, Michael T Pascher, Marina Vogel, Angela Abicht, Sébastien Moutton, Ange-Line Bruel, Claudine Rieubland, Sabina Gallati, Tim M Strom, Hanns Lochmüller, Mohammad Hasan Mohammadi, Javeria Raza Alvi, Elaine H Zackai, Beth A Keena, Cara M Skraban, Seth I Berger, Erin H Andrew, Elham Rahimian, Michelle M Morrow, Ingrid M Wentzensen, Francisca Millan, Lindsay B Henderson, Hormos Salimi Dafsari, Heinz Jungbluth, Natalia Gomez-Ospina, Anne McRae, Merlene Peter, Danai Veltra, Nikolaos M Marinakis, Christalena Sofocleous, Farah Ashrafzadeh, Davut Pehlivan, Johannes R Lemke, Judith Melki, Audrey Benezit, Peter Bauer, Denisa Weis, James R Lupski, Jan Senderek, John Christodoulou, Wendy K Chung, Rose Goodchild, Amaka C Offiah, Andres Moreno-De-Luca, Mohnish Suri, Darius Ebrahimi-Fakhari, Henry Houlden, Reza Maroofian
المصدر: Saffari, Afshin; Lau, Tracy; Tajsharghi, Homa; Karimiani, Ehsan Ghayoor; Kariminejad, Ariana; Efthymiou, Stephanie; Zifarelli, Giovanni; Sultan, Tipu; Toosi, Mehran Beiraghi; Sedighzadeh, Sahar; Siu, Victoria Mok; Ortigoza-Escobar, Juan Darío; AlShamsi, Aisha M; Ibrahim, Shahnaz; Al-Sannaa, Nouriya Abbas; Al-Hertani, Walla; Sandra, Whalen; Tarnopolsky, Mark; Alavi, Shahryar; Li, Chumei; ... (2023). The clinical and genetic spectrum of autosomal-recessive TOR1A-related disorders. (In Press). Brain : a journal of neurology Oxford University Press 10.1093/brain/awad039 <http://dx.doi.org/10.1093/brain/awad039Test>
مصطلحات موضوعية: NDD, biallelic variation, AMC5, 610 Medicine & health, Neurology (clinical), Torsin-1A, 610 Medizin und Gesundheit, arthrogryposis multiplex congenita 5, Medical Genetics, Medicinsk genetik
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3b06949eaa976668e979bbd3a670e289Test
http://urn.kb.se/resolve?urn=urn:nbn:se:his:diva-22889Test -
13
المؤلفون: Sayaka Kayumi, Luis A. Pérez-Jurado, María Palomares, Sneha Rangu, Sarah E. Sheppard, Wendy K. Chung, Michael C. Kruer, Mira Kharbanda, David J. Amor, George McGillivray, Julie S. Cohen, Sixto García-Miñaúr, Clare L. van Eyk, Kelly Harper, Lachlan A. Jolly, Dani L. Webber, Christopher P. Barnett, Fernando Santos-Simarro, Marta Pacio-Míguez, Angela del Pozo, Somayeh Bakhtiari, Matthew Deardorff, Holly A. Dubbs, Kosuke Izumi, Katheryn Grand, Christopher Gray, Paul R. Mark, Elizabeth J. Bhoj, Dong Li, Xilma R. Ortiz-Gonzalez, Beth Keena, Elaine H. Zackai, Ethan M. Goldberg, Guiomar Perez de Nanclares, Arrate Pereda, Isabel Llano-Rivas, Ignacio Arroyo, María Ángeles Fernández-Cuesta, Christel Thauvin-Robinet, Laurence Faivre, Aurore Garde, Benoit Mazel, Ange-Line Bruel, Michael L. Tress, Eva Brilstra, Amena Smith Fine, Kylie E. Crompton, Alexander P.A. Stegmann, Margje Sinnema, Servi C.J. Stevens, Joost Nicolai, Gaetan Lesca, Laurence Lion-François, Damien Haye, Nicolas Chatron, Amelie Piton, Mathilde Nizon, Benjamin Cogne, Siddharth Srivastava, Jennifer Bassetti, Candace Muss, Karen W. Gripp, Rebecca A. Procopio, Francisca Millan, Michelle M. Morrow, Melissa Assaf, Andres Moreno-De-Luca, Shelagh Joss, Mark J. Hamilton, Marta Bertoli, Nicola Foulds, Shane McKee, Alastair H. MacLennan, Jozef Gecz, Mark A. Corbett
المساهمون: MUMC+: DA KG Lab Specialisten (9), MUMC+: DA KG Polikliniek (9), Klinische Neurowetenschappen, MUMC+: MA Med Staf Spec Neurologie (9), RS: MHeNs - R1 - Cognitive Neuropsychiatry and Clinical Neuroscience
المصدر: Genetics in Medicine, 24(11), 2351-2366. Nature Publishing Group
مصطلحات موضوعية: Phenotype, Neurodevelopmental Disorders, Autism, Intellectual Disability, Familial exudative vitreoretinopathy, Microcephaly, Cerebral palsy, Humans, Genomics, Wnt Signaling Pathway, Genetics (clinical), Wnt beta catenin signaling pathway, beta Catenin
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::39da46305e279508a3404a4fa7b9a021Test
https://cris.maastrichtuniversity.nl/en/publications/8765aa6f-3ad3-4759-bfa6-47bb6f32b0fcTest -
14
المؤلفون: Sheng-Jia Lin, Barbara Vona, Tracy Lau, Kevin Huang, Maha S. Zaki, Huda Shujaa Aldeen, Ehsan Ghayoor Karimiani, Clarissa Rocca, Mahmoud M. Noureldeen, Ahmed K. Saad, Cassidy Petree, Tobias Bartolomaeus, Rami Abou Jamra, Giovanni Zifarelli, Aditi Gotkhindikar, Ingrid M. Wentzensen, Mingjuan Liao, Emalyn Elise Cork, Pratishtha Varshney, Narges Hashemi, Mohammad Hasan Mohammadi, Aboulfazl Rad, Juanita Neira, Mehran Beiraghi Toosi, Cordula Knopp, Ingo Kurth, Thomas D. Challman, Rebecca Smith, Asmahan Abdalla, Thomas Haaf, Mohnish Suri, Manali Joshi, Wendy K. Chung, Andres Moreno-De-Luca, Henry Houlden, Reza Maroofian, Gaurav K. Varshney
مصطلحات موضوعية: Genetics, 2-oxo acid dehydrogenase, OGDHL, Genetic compensation, Disease model, Zebrafish, Neurodevelopmental disorders, Mitochondria, Variant testing
الإتاحة: https://doi.org/10.6084/m9.figshare.24670002.v1Test
https://figshare.com/articles/dataset/Additional_file_1_of_Evaluating_the_association_of_biallelic_OGDHL_variants_with_significant_phenotypic_heterogeneity/24670002Test -
15
المؤلفون: Pedro J. Gonzalez-Mantilla, Yirui Hu, Scott M. Myers, Brenda M. Finucane, David H. Ledbetter, Christa L. Martin, Andres Moreno-De-Luca
المصدر: JAMA Pediatrics. 177:472
مصطلحات موضوعية: Pediatrics, Perinatology and Child Health
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::1b5df6d739e96e5bed62376241eb6744Test
https://doi.org/10.1001/jamapediatrics.2023.0008Test -
16
المؤلفون: Cora M. Taylor, Brenda M. Finucane, Andres Moreno-De-Luca, Lauren K. Walsh, Christa Lese Martin, David H. Ledbetter
المصدر: Genetics in medicine : official journal of the American College of Medical Genetics. 25(1)
مصطلحات موضوعية: Genetics (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a4b43d341580e84ad3cadbd4d5e874a9Test
https://pubmed.ncbi.nlm.nih.gov/36609147Test -
17
المؤلفون: Juliann M. Savatt, Hermela Shimelis, Andres Moreno-De-Luca, Natasha T. Strande, Matthew T. Oetjens, David H. Ledbetter, Christa Lese Martin, Scott M. Myers, Brenda M. Finucane
المصدر: Genet Med
مصطلحات موضوعية: Birt-Hogg-Dube Syndrome, Lung Diseases, Phenotype, Cysts, Proto-Oncogene Proteins, Tumor Suppressor Proteins, Humans, Pneumothorax, Delivery of Health Care, Skin Diseases, Genetics (clinical), Article, Kidney Neoplasms
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::21b4e1a98407abc84d711a3587c3cf45Test
https://europepmc.org/articles/PMC9703446Test/ -
18
المؤلفون: Juliann M. Savatt, Hermela Shimelis, Andres Moreno-De-Luca, Natasha T. Strande, Matthew T. Oetjens, David H. Ledbetter, Christa Lese Martin, Scott M. Myers, Brenda M. Finucane
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::f449511555116e51b68ba084b6dc7e45Test
https://doi.org/10.1101/2022.01.31.22269926Test -
19
المؤلفون: Maria J. Guillen Sacoto, Lindsey Schmidt, Juvianee I Estrada-Veras, Denise L. Perry, Alka Malhotra, Andres Moreno-De-Luca, Megan Bell, Karen E. Wain, Catherine Hajek, Ingrid M. Wentzensen, Amanda Clause
المصدر: Molecular Syndromology. 12:33-40
مصطلحات موضوعية: Genetics, 0303 health sciences, 030305 genetics & heredity, Biology, Cortical dysplasia, medicine.disease, Hypotonia, 03 medical and health sciences, Autism spectrum disorder, medicine, Autism, Missense mutation, Global developmental delay, medicine.symptom, Exome, Genetics (clinical), Exome sequencing, 030304 developmental biology
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::fe676ff712ab10a9a4304e63cac4defdTest
https://doi.org/10.1159/000512160Test -
20
المؤلفون: Phan Q. Duy, Stefan C. Weise, Claudia Marini, Xiao-Jun Li, Dan Liang, Peter J. Dahl, Shaojie Ma, Ana Spajic, Weilai Dong, Jane Juusola, Emre Kiziltug, Adam J. Kundishora, Sunil Koundal, Maysam Z. Pedram, Lucia A. Torres-Fernández, Kristian Händler, Elena De Domenico, Matthias Becker, Thomas Ulas, Stefan A. Juranek, Elisa Cuevas, Le Thi Hao, Bettina Jux, André M. M. Sousa, Fuchen Liu, Suel-Kee Kim, Mingfeng Li, Yiying Yang, Yutaka Takeo, Alvaro Duque, Carol Nelson-Williams, Yonghyun Ha, Kartiga Selvaganesan, Stephanie M. Robert, Amrita K. Singh, Garrett Allington, Charuta G. Furey, Andrew T. Timberlake, Benjamin C. Reeves, Hannah Smith, Ashley Dunbar, Tyrone DeSpenza, June Goto, Arnaud Marlier, Andres Moreno-De-Luca, Xin Yu, William E. Butler, Bob S. Carter, Evelyn M. R. Lake, R. Todd Constable, Pasko Rakic, Haifan Lin, Engin Deniz, Helene Benveniste, Nikhil S. Malvankar, Juvianee I. Estrada-Veras, Christopher A. Walsh, Seth L. Alper, Joachim L. Schultze, Katrin Paeschke, Angelika Doetzlhofer, F. Gregory Wulczyn, Sheng Chih Jin, Richard P. Lifton, Nenad Sestan, Waldemar Kolanus, Kristopher T. Kahle
المصدر: Nat Neurosci
Nature neuroscience 25(4), 458-473 (2022). doi:10.1038/s41593-022-01043-3مصطلحات موضوعية: cerebrospinal fluid [Hydrocephalus], genetics [Ubiquitin-Protein Ligases], General Neuroscience, Neurogenesis, Ubiquitin-Protein Ligases, Brain, genetics [Tripartite Motif Proteins], Whole Exome Sequencing, Article, Biomechanical Phenomena, Tripartite Motif Proteins, metabolism [Cerebrospinal Fluid], Mice, metabolism [Tripartite Motif Proteins], metabolism [Brain], genetics [Hydrocephalus], genetics [Neurogenesis], Exome Sequencing, Animals, Humans, ddc:610, TRIM71 protein, human, Cerebrospinal Fluid, Hydrocephalus
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d7188034c8e54b35384ea495840fb8d5Test
https://pubmed.ncbi.nlm.nih.gov/35379995Test