المؤلفون: Anjali Vig, James A. Poulter, Daniele Ottaviani, Erika Tavares, Katerina Toropova, Anna Maria Tracewska, Antonio Mollica, Jasmine Kang, Oshini Kehelwathugoda, Tara Paton, Jason T. Maynes, Gabrielle Wheway, Gavin Arno, 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, 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, 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, C. Patch, D. Perez-Gil, 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, A. Sosinsky, W. Spooner, H.E. Stevens, A. Stuckey, R. Sultana, 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, Kamron N. Khan, Martin McKibbin, Carmel Toomes, Manir Ali, Matteo Di Scipio, Shuning Li, Jamie Ellingford, Graeme Black, Andrew Webster, Małgorzata Rydzanicz, Piotr Stawiński, Rafał Płoski, Ajoy Vincent, Michael E. Cheetham, Chris F. Inglehearn, Anthony Roberts, Elise Heon

المصدر: Genetics in Medicine

مصطلحات موضوعية: 0301 basic medicine, Proband, Retinal degeneration, intraflagellar transport (IFT), Cytoplasmic Dyneins, Ellis-Van Creveld Syndrome, 030105 genetics & heredity, Biology, Article, Retina, 03 medical and health sciences, Exon, chemistry.chemical_compound, primary cilia, medicine, Organoid, Missense mutation, Humans, Induced pluripotent stem cell, Genetics (clinical), Exome sequencing, Retinal Degeneration, Retinal, Exons, DYNC2H1, medicine.disease, Molecular biology, retinitis pigmentosa (RP), Pedigree, inherited retinal disease (IRD), 030104 developmental biology, chemistry, Mutation

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9c0d1392a5b005c16762f6fc0adb770bTest
http://europepmc.org/articles/PMC7708302Test

المؤلفون: M. Tanguy, A. Hamblin, Ehsan Ghayoor Karimiani, Javeria Raza Alvi, Gökhan Yigit, D. Kasperaviciute, Shima Imannezhad, C.R. Boustred, Brigitte Chabrol, Ehtisham Ul Haq Makhdoom, Cécile Mignon-Ravix, Vasiliki Karageorgou, Maria Iqbal, Farah Ashrafzadeh, Sheraz Jamal Khan, Michael Field, Henry Houlden, Adam Jackson, David A. Dyment, J. Pullinger, Yasra Sarwar, S.E.A. Leigh, Jamshaid Mahmood Baig, Zafar Ali, S.C. Smith, A. Stuckey, Muhammad Sajid Hussain, Fatima Rahman, N. Murugaesu, J.C. Ambrose, M. Mueller, K. Sawant, A. Sieghart, E. Walsh, Alistair T. Pagnamenta, Shahid Mahmood Baig, R. Jackson, E.R.A. Thomas, M.B. Pereira, Fowzan S. Alkuraya, K. Witkowska, Augusto Rendon, P. Arumugam, F. Boardman-Pretty, Angelika A. Noegel, Siddharth Banka, Uzma Abdullah, Tim Hubbard, T. Rahim, F.J. Lopez, Dalal K. Bubshait, Louise J. Jones, A. Giess, M.J. Welland, Susanne Motameny, Mehran Beiraghi Toosi, E. Williams, Barbara Vona, Arianna Tucci, K. Savage, Florence Molinari, Florence Riccardi, Mark J. Caulfield, I.U. Leong, M. Kayikci, Muhammad Jameel, Christian Beetz, A. Kousathanas, A. Siddiq, T. Fowler, Yun Li, Jozef Hertecant, M. Bleda, F. Maleady-Crowe, Birgit Budde, Sofia Douzgou, Wolfgang Höhne, C.A. Odhams, Laurent Villard, Janine Altmüller, S.R. Thompson, Lesley C. Adès, Christine Patch, Aboulfazl Rad, P. O’Donovan, A.C. Need, S. M. Wood, L. Lahnstein, L. Moutsianas, Büşranur Çavdarlı, Reza Maroofian, S. Henderson, Tobias Scherf de Almeida, D. Perez-Gil, Tipu Sultan, T. Rogers, Stephanie Efthymiou, Shazia Maqbool, G.C. Chan, A. Sosinsky, Jayne Antony, H. Brittain, R.H. Scott, Peter Nürnberg, Bernd Wollnik, Matthew Osmond

المساهمون: Marseille medical genetics - Centre de génétique médicale de Marseille (MMG), Aix Marseille Université (AMU)-Institut National de la Santé et de la Recherche Médicale (INSERM), Département de génétique médicale [Hôpital de la Timone - APHM], Aix Marseille Université (AMU)-Assistance Publique - Hôpitaux de Marseille (APHM)- Hôpital de la Timone [CHU - APHM] (TIMONE)-Institut National de la Santé et de la Recherche Médicale (INSERM), Neurologie, maladies neuro-musculaires [Hôpital de la Timone - APHM], Aix Marseille Université (AMU)-Assistance Publique - Hôpitaux de Marseille (APHM)- Hôpital de la Timone [CHU - APHM] (TIMONE)

المصدر: Genetics in Medicine
Genetics in Medicine, Nature Publishing Group, 2021, ⟨10.1038/s41436-021-01260-4⟩
Genomics England Research Consortium 2021, ' Biallelic variants in PCDHGC4 cause a novel neurodevelopmental syndrome with progressive microcephaly, seizures, and joint anomalies ', Genetics in medicine : official journal of the American College of Medical Genetics . https://doi.org/10.1038/s41436-021-01260-4Test

مصطلحات موضوعية: 0301 basic medicine, In silico, Cadherin Related Proteins, Biology, Article, 03 medical and health sciences, symbols.namesake, 0302 clinical medicine, Neurodevelopmental disorder, Seizures, Intellectual Disability, Intellectual disability, medicine, Missense mutation, Humans, Genetics (clinical), Exome sequencing, Genetics, Progressive microcephaly, [SDV.GEN]Life Sciences [q-bio]/Genetics, medicine.disease, Cadherins, Human genetics, Pedigree, 030104 developmental biology, Phenotype, Neurodevelopmental Disorders, Mendelian inheritance, symbols, Microcephaly, Technology Platforms, 030217 neurology & neurosurgery

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4c59f5c4822ac8d7c57e3efbd28beeedTest
https://hal.archives-ouvertes.fr/hal-03322569Test

المؤلفون: Sheng-Jia Lin, Barbara Vona, Patricia G. Barbalho, Rauan Kaiyrzhanov, Reza Maroofian, Cassidy Petree, Mariasavina Severino, Valentina Stanley, Pratishtha Varshney, Paulina Bahena, Fatema Alzahrani, Amal Alhashem, Alistair T. Pagnamenta, Gudrun Aubertin, Juvianee I. Estrada-Veras, Héctor Adrián Díaz Hernández, Neda Mazaheri, Andrea Oza, Jenny Thies, Deborah L. Renaud, Sanmati Dugad, Jennifer McEvoy, Tipu Sultan, Lynn S. Pais, Brahim Tabarki, Daniel Villalobos-Ramirez, Aboulfazl Rad, J.C. Ambrose, P. Arumugam, M. Bleda, F. Boardman-Pretty, C.R. Boustred, H. Brittain, M.J. Caulfield, G.C. Chan, T. Fowler, A. Giess, A. Hamblin, S. Henderson, T.J.P. Hubbard, R. Jackson, L.J. Jones, D. Kasperaviciute, M. Kayikci, A. Kousathanas, L. Lahnstein, S.E.A. Leigh, I.U.S. Leong, F.J. Lopez, F. Maleady-Crowe, L. Moutsianas, M. Mueller, N. Murugaesu, A.C. Need, P. O‘Donovan, C.A. Odhams, C. Patch, D. Perez-Gil, M.B. Pereira, J. Pullinger, T. Rahim, A. Rendon, T. Rogers, K. Savage, K. Sawant, R.H. Scott, A. Siddiq, A. Sieghart, S.C. Smith, A. Sosinsky, A. Stuckey, M. Tanguy, E.R.A. Thomas, S.R. Thompson, A. Tucci, E. Walsh, M.J. Welland, E. Williams, K. Witkowska, S.M. Wood, Hamid Galehdari, Farah Ashrafzadeh, Afsaneh Sahebzamani, Kolsoum Saeidi, Erin Torti, Houda Z. Elloumi, Sara Mora, Timothy B. Palculict, Hui Yang, Jonathan D. Wren, null Ben Fowler, Manali Joshi, Martine Behra, Shawn M. Burgess, Swapan K. Nath, Michael G. Hanna, Margaret Kenna, J. Lawrence Merritt, Henry Houlden, Ehsan Ghayoor Karimiani, Maha S. Zaki, Thomas Haaf, Fowzan S. Alkuraya, Joseph G. Gleeson, Gaurav K. Varshney

المصدر: Genetics in medicine : official journal of the American College of Medical Genetics. 23(10)

مصطلحات موضوعية: Genetics, Lysine-tRNA Ligase, biology, Disease, biology.organism_classification, medicine.disease, Phenotype, Human genetics, Disease Models, Animal, Neurodevelopmental Disorders, medicine, Missense mutation, Autism, Animals, Humans, Allele, Hearing Loss, Zebrafish, Genetics (clinical), Gene knockout, Alleles

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::91f3ae350cc512f0b956a6e8d9210c51Test
https://pubmed.ncbi.nlm.nih.gov/34172899Test

المؤلفون: M. Zarowiecki, A. Devereau, S.M. Wood, J. M. Boissiere, G. Elgar, Cara Forster, Liesbeth Keldermans, A. Sieghart, Allyn McConkie-Rosell, Augusto Rendon, S. R. Thompson, D. Polychronopoulos, Alexandre Arkader, Julien Thevenon, D. Kasperaviciute, Alma Kuechler, Bryan L. Krock, Dominique Martin-Coignard, Damian Smedley, T. Rahim, Barbara Mikat, Amber Begtrup, Priya Prasad, Lindsay B. Henderson, A. Stuckey, Mathilde Nizon, Tim Hubbard, I. U. S. Leong, M. Bleda, L. Lahnstein, C. E. H. Craig, Bertrand Isidor, Sarah Leigh, Joanne Mason, L. Moutsianas, T. Fowler, A. Siddiq, J. Pullinger, Marco Angelozzi, J. Ambrose, S. A. Watters, Saadet Mercimek-Andrews, K. Lawson, Claudia A. L. Ruivenkamp, Ian D. Krantz, J. E. Holman, Solveig Heide, Christel Depienne, Elizabeth T. DeChene, L. C. Daugherty, Alvaro Serrano Russi, Arianna Tucci, Mark J. Caulfield, Marie T. McDonald, Boris Keren, A. C. Need, Damara Ortiz, Nicola Foulds, William Spooner, Dara Tolchin, Eduardo Calpena, C. R. Boustred, Abdul Haseeb, Rudolf Gorazd, Charles Coutton, Alona Sosinsky, D. Perez-Gil, Sarah Stewart, J. M. Hackett, Giada Melistaccio, Andrew O.M. Wilkie, Radka Stoeva, Cédric Le Caignec, Pauline Le Tanno, Benjamin Cogné, Martina Mueller, Naghmeh Dorrani, Pedro Furió-Tarí, Gijs W. E. Santen, Hermann-Josef Lüdecke, Jessica P. Yeager, Julian A. Martinez-Agosto, Damien Haye, Kieran B. Pechter, Mohnish Suri, Livija Medne, M. J. Welland, Patrick Reed, K. Savage, G. C. Chan, Anne C.H. Tsai, F. Maleady-Crowe, A. de Burca, Ellen M. McDonagh, T. Rogers, F. Boardman-Pretty, Emily Lancaster, Katherine R. Smith, Christopher A. Odhams, Véronique Lefebvre, M. Ryten, Olivier Pichon, D. Halai, Aleš Maver, Christine Patch, R. E. Foulger, Frédéric Bilan, Helen Stevens, Hilde Van Esch, Eleanor Williams, Brigitte Gilbert-Dussardier, C. Tregidgo, K. Witkowska, F. J. Lopez, Gwenaël Le Guyader, Richard H Scott, M. Kayikci, Ellen Thomas, E. Walsh

المصدر: American Journal of Human Genetics, 106(6), 830-845. CELL PRESS
Am J Hum Genet

مصطلحات موضوعية: 0301 basic medicine, Male, Osteochondroma, Adolescent, Transcription, Genetic, media_common.quotation_subject, Nonsense, Medizin, Active Transport, Cell Nucleus, Mutation, Missense, Biology, Cell fate determination, Translocation, Genetic, Article, Craniosynostosis, 03 medical and health sciences, Craniosynostoses, 0302 clinical medicine, Intellectual disability, Genetics, medicine, Missense mutation, Humans, Computer Simulation, Amino Acid Sequence, RNA-Seq, Child, Gene, Genetics (clinical), media_common, Base Sequence, Brain, Infant, Syndrome, medicine.disease, 030104 developmental biology, Attention Deficit Disorder with Hyperactivity, Neurodevelopmental Disorders, Child, Preschool, Genomic Structural Variation, Autism, Female, Haploinsufficiency, Transcriptome, SOXD Transcription Factors, 030217 neurology & neurosurgery

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::25e4b2005e77addcf2aa011f8a987ba7Test
https://www.sciencedirect.com/science/article/pii/S0002929720301245?via=ihubTest