المؤلفون: Griet De Clercq, Lies Vantomme, Barbara Dewaele, Bert Callewaert, Olivier Vanakker, Sandra Janssens, Bart Loeys, Mojca Strazisar, Wouter De Coster, Joris Robert Vermeesch, Annelies Dheedene, Björn Menten

المصدر: Scientific Reports, Vol 14, Iss 1, Pp 1-12 (2024)

مصطلحات موضوعية: Long-read sequencing, Optical genome mapping, Structural variation, Clinical genomics, Chromothripsis, Complex genomic rearrangements, Medicine, Science

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2045-2322

URL الوصول: https://doaj.org/article/ddf31f2fa73e4d6bbc89654922dff66c

المؤلفون: Whalen, Sandra, Shaw, Marie, Mignot, Cyril, Héron, Delphine, Bastaraud, Sandra Chantot, Walti, Cecile Cieuta, Liebelt, Jan, Elmslie, Frances, Yap, Patrick, Hurst, Jane, Forsythe, Elisabeth, Kirmse, Brian, Ozmore, Jillian, Spinelli, Alessandro Mauro, Calabrese, Olga, de Villemeur, Thierry Billette, Tabet, Anne Claude, Levy, Jonathan, Guet, Agnes, Kossorotoff, Manoëlle, Kamien, Benjamin, Morton, Jenny, McCabe, Anne, Brischoux-Boucher, Elise, Raas-Rothschild, Annick, Pini, Antonella, Carroll, Renée, Hartley, Jessica N, Frosk, Patrick, Slavotinek, Anne, Truxal, Kristen, Jennifer, Carroll, Dheedene, Annelies, Cui, Hong, Kumar, Vishal, Thomson, Glen, Riccardi, Florence, Gecz, Jozef, Villard, Laurent

المصدر: European Journal of Human Genetics. 29(9)

مصطلحات موضوعية: Biological Sciences, Genetics, Rare Diseases, Women's Health, Intellectual and Developmental Disabilities (IDD), Neurosciences, Liver Disease, Brain Disorders, Digestive Diseases, 2.1 Biological and endogenous factors, Adolescent, Adult, Child, Child, Preschool, Deafness, Female, Hereditary Central Nervous System Demyelinating Diseases, Humans, Intellectual Disability, Loss of Function Mutation, Male, Membrane Proteins, Mutation, Missense, Pedigree, Phenotype, Syndrome, Care4Rare Canada Consortium, Clinical Sciences, Genetics & Heredity, Clinical sciences

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/3jk59196
https://escholarship.org/content/qt3jk59196/qt3jk59196.pdf

المؤلفون: Li, Dong, March, Michael E, Fortugno, Paola, Cox, Liza L, Matsuoka, Leticia S, Monetta, Rosanna, Seiler, Christoph, Pyle, Louise C, Bedoukian, Emma C, Sánchez-Soler, María José, Caluseriu, Oana, Grand, Katheryn, Tam, Allison, Aycinena, Alicia RP, Camerota, Letizia, Guo, Yiran, Sleiman, Patrick, Callewaert, Bert, Kumps, Candy, Dheedene, Annelies, Buckley, Michael, Kirk, Edwin P, Turner, Anne, Kamien, Benjamin, Patel, Chirag, Wilson, Meredith, Roscioli, Tony, Christodoulou, John, Cox, Timothy C, Zackai, Elaine H, Brancati, Francesco, Hakonarson, Hakon, Bhoj, Elizabeth J

المصدر: Human Genetics. 140(7)

مصطلحات موضوعية: Biochemistry and Cell Biology, Biomedical and Clinical Sciences, Biological Sciences, 2.1 Biological and endogenous factors, Aetiology, Abnormalities, Multiple, Amino Acid Sequence, Cadherins, Cell Adhesion, Cell Movement, Craniofacial Abnormalities, Female, Foot Deformities, Congenital, Genetic Variation, Hand Deformities, Congenital, Heterozygote, Homozygote, Humans, Hypertelorism, Male, Pedigree, Phenotype, Genetics, Complementary and Alternative Medicine, Paediatrics and Reproductive Medicine, Genetics & Heredity, Reproductive medicine

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/6436982t

المؤلفون: Pérez Baca, María Del Rocío, Jacobs, Eva Z, Vantomme, Lies, Leblanc, Pontus, Bogaert, Elke, Dheedene, Annelies, De Cock, Laurenz, Haghshenas, Sadegheh, Foroutan, Aidin, Levy, Michael A, Kerkhof, Jennifer, McConkey, Haley, Chen, Chun-An, Batzir, Nurit Assia, Wang, Xia, Palomares, María, Carels, Marieke, ZFHX3 consortium, Dermaut, Bart, Sadikovic, Bekim, Menten, Björn, Yuan, Bo, Vergult, Sarah, Callewaert, Bert

المساهمون: UCL - (SLuc) Centre de génétique médicale UCL

المصدر: American journal of human genetics, Vol. 111, no.3, p. 509-528 (2024)

مصطلحات موضوعية: Humans, Intellectual Disability, Autism Spectrum Disorder, Haploinsufficiency, Neurodevelopmental Disorders, Brain, Homeodomain Proteins, ZFHX3, chromatin remodeling complex, mRNA polyadenylation and cleavage complex, neurodevelopmental disorder

Relation: boreal:296803; http://hdl.handle.net/2078.1/296803; info:pmid/38412861

الاتاحة: http://hdl.handle.net/2078.1/296803
https://doi.org/10.1016/j.ajhg.2024.01.013

المؤلفون: De Witte, Lisa, Baetens, Machteld, Tilleman, Kelly, Vanden Meerschaut, Frauke, Janssens, Sandra, Van Tongerloo, Ariane, Szymczak, Virginie, Stoop, Dominic, Dheedene, Annelies, Symoens, Sofie, Menten, Björn

المصدر: HUMAN REPRODUCTION OPEN ; ISSN: 2399-3529

مصطلحات موضوعية: Medicine and Health Sciences, Biology and Life Sciences, MOSAICISM, ABNORMALITIES, BLASTOCYST, ORIGIN, MODEL, preimplantation genetic testing, PGT, aneuploidy, chromosomal abnormalities, chromosomal mosaicism, copy number, genotyping, meiosis, mitosis, monogenic disease

وصف الملف: application/pdf

Relation: https://biblio.ugent.be/publication/01JBW5WHF3BNBRMBB92A2J506K; http://doi.org/10.1093/hropen/hoae056; https://biblio.ugent.be/publication/01JBW5WHF3BNBRMBB92A2J506K/file/01JBW69742S8GV48M8NW31YPH7

الاتاحة: https://biblio.ugent.be/publication/01JBW5WHF3BNBRMBB92A2J506K
http://hdl.handle.net/1854/LU-01JBW5WHF3BNBRMBB92A2J506K
https://doi.org/10.1093/hropen/hoae056
https://biblio.ugent.be/publication/01JBW5WHF3BNBRMBB92A2J506K/file/01JBW69742S8GV48M8NW31YPH7

المؤلفون: Tessarech, Marine, Friocourt, Gaëlle, Marguet, Florent, Lecointre, Maryline, Le Mao, Morgane, Muñoz Díaz, Rodrigo, Mignot, Cyril, Keren, Boris, Héron, Bénédicte, De Bie, Charlotte, Van Gassen, Koen, Loisel, Didier, Delorme, Benoit, Syrbe, Steffen, Klabunde-Cherwon, Annick, Jamra, Rami Abou, Wegler, Meret, Callewaert, Bert, Dheedene, Annelies, Zidannes-Marinnes, Merzouka, Guichet, Agnès, Bris, Céline, Van Bogaert, Patrick, Biquard, Florence, Lenaers, Guy, Marcorelles, Pascale, Ferec, Claude, Gonzalez, Bruno, Procaccio, Vincent, Vitobello, Antonio, Bonneau, Dominique, Laquerriere, Annie, Khiati, Salim, Colin, Estelle

المصدر: GENETICS IN MEDICINE ; ISSN: 1098-3600 ; ISSN: 1530-0366

مصطلحات موضوعية: Medicine and Health Sciences, SP9, Neurodevelopmental disorders, Neomorphic DNA-binding functions, KLF/SP transcription factor, Interneuronopathy

وصف الملف: application/pdf

Relation: https://biblio.ugent.be/publication/01HRPYMJK05S0QK3G9NRSZV0WX; http://doi.org/10.1016/j.gim.2024.101087; https://biblio.ugent.be/publication/01HRPYMJK05S0QK3G9NRSZV0WX/file/01HSXQCPCCEVDAXYQ7VGMTMGAA

الاتاحة: https://biblio.ugent.be/publication/01HRPYMJK05S0QK3G9NRSZV0WX
http://hdl.handle.net/1854/LU-01HRPYMJK05S0QK3G9NRSZV0WX
https://doi.org/10.1016/j.gim.2024.101087
https://biblio.ugent.be/publication/01HRPYMJK05S0QK3G9NRSZV0WX/file/01HSXQCPCCEVDAXYQ7VGMTMGAA

المؤلفون: De Clercq, Griet, Vantomme, Lies, Callewaert, Bert, Vergult, Sarah, Dheedene, Annelies, Menten, Björn

المصدر: Belgian Society for Human Genetics (BeSHG) Annual Meeting 2023 : To DNA and beyond, Abstracts

مصطلحات موضوعية: Medicine and Health Sciences

وصف الملف: application/pdf

Relation: https://biblio.ugent.be/publication/01HMBHCMEW26139BFS08TXRW75; http://hdl.handle.net/1854/LU-01HMBHCMEW26139BFS08TXRW75; https://biblio.ugent.be/publication/01HMBHCMEW26139BFS08TXRW75/file/01HRSK2BH0ZG2CKYH24Y2770WA

الاتاحة: https://biblio.ugent.be/publication/01HMBHCMEW26139BFS08TXRW75
http://hdl.handle.net/1854/LU-01HMBHCMEW26139BFS08TXRW75
https://biblio.ugent.be/publication/01HMBHCMEW26139BFS08TXRW75/file/01HRSK2BH0ZG2CKYH24Y2770WA

المؤلفون: De Clercq, Griet, Vantomme, Lies, Callewaert, Bert, Dewaele, Barbara, Vermeesch, Joris, Dheedene, Annelies, Menten, Björn

المصدر: Genomics of Rare Disease 2023 Conference, Abstracts

مصطلحات موضوعية: Medicine and Health Sciences, Biology and Life Sciences

وصف الملف: application/pdf

Relation: https://biblio.ugent.be/publication/01HMBSH7MNY96AJ9VBV1JWAT0M; http://hdl.handle.net/1854/LU-01HMBSH7MNY96AJ9VBV1JWAT0M; https://biblio.ugent.be/publication/01HMBSH7MNY96AJ9VBV1JWAT0M/file/01HRSN7DTRV8ETN5B5091N1DEK

الاتاحة: https://biblio.ugent.be/publication/01HMBSH7MNY96AJ9VBV1JWAT0M
http://hdl.handle.net/1854/LU-01HMBSH7MNY96AJ9VBV1JWAT0M
https://biblio.ugent.be/publication/01HMBSH7MNY96AJ9VBV1JWAT0M/file/01HRSN7DTRV8ETN5B5091N1DEK

المؤلفون: Van Wauwe, Jore, Mahy, Alexia, Craps, Sander, Ekhteraei-Tousi, Samaneh, Vrancaert, Pieter, Kemps, Hannelore, Dheedene, Wouter, Doñate Puertas, Rosa, Trenson, Sander, Roderick, H. Llewelyn, Beerens, Manu, Luttun, Aernout

المصدر: Life Science Alliance; Dec2024, Vol. 7 Issue 12, p1-25, 25p

المؤلفون: Pérez Baca, Maria del Rocio, Jacobs, Eva, Vantomme, Lies, LeBlanc, Pontus, Bogaert, Elke, Dheedene, Annelies, De Cock, Laurenz, Dermaut, Bart, Foroutan, Aidin, Kerkhof, Jennifer, McConkey, Haley, Sadikovic, Bekim, Consortium, ZFHX3, Menten, Björn, Yuan, Bo, Vergult, Sarah, Callewaert, Bert

المصدر: Joint BeSHG / NVHG meeting 2022, Abstracts

مصطلحات موضوعية: Medicine and Health Sciences

وصف الملف: application/pdf

Relation: https://biblio.ugent.be/publication/8760053; http://hdl.handle.net/1854/LU-8760053; https://biblio.ugent.be/publication/8760053/file/01GRNHQ9H8BCPRDXS3F59H1PC4

الاتاحة: https://biblio.ugent.be/publication/8760053
http://hdl.handle.net/1854/LU-8760053
https://biblio.ugent.be/publication/8760053/file/01GRNHQ9H8BCPRDXS3F59H1PC4

المؤلفون: Syryn, Hannes, Velde, Julie Van de, Clercq, Griet De, Verdin, Hannah, Dheedene, Annelies, Peelman, Frank, Sinclair, Andrew, Ayers, Katie L, Bathgate, Ross A D, Cools, Martine, Baere, Elfride De

المصدر: Human Reproduction; Oct2024, Vol. 39 Issue 10, p2353-2363, 11p

مصطلحات موضوعية: MALE infertility, CYCLIC adenylic acid, MISSENSE mutation, FETAL development, REPORTER genes, SPERMATOGENESIS

المؤلفون: Witte, Lisa De, Baetens, Machteld, Tilleman, Kelly, Meerschaut, Frauke Vanden, Janssens, Sandra, Tongerloo, Ariane Van, Szymczak, Virginie, Stoop, Dominic, Dheedene, Annelies, Symoens, Sofie, Menten, Björn

المصدر: Human Reproduction Open; 2024, Vol. 2024 Issue 4, p1-14, 14p

مصطلحات موضوعية: MOSAICISM, ANEUPLOIDY, GENETIC testing, CHROMOSOMES, TRISOMY

المؤلفون: Dheedene, Lise¹ lise.dheedene@uantwerpen.be, Loobuyck, Patrick¹ patrick.loobuyck@uantwerpen.be, Oosterlynck, Stijn¹ stijn.oosterlynck@uantwerpen.be

المصدر: International Journal of Religion & Spirituality in Society. Sep2024, Vol. 14 Issue 3, p117-134. 18p.

مصطلحات موضوعية: *POWER (Social sciences), *CITY councils, *GEOGRAPHERS, *FAITH, *UMBRELLAS, *SOLIDARITY

مصطلحات جغرافية: FLANDERS

المؤلفون: De Cock, Laurenz, D'haenens, Erika, Vergult, Sarah, Vantomme, Lies, Dheedene, Annelies, de Putter, Robin, Van Damme, Tim, Sourbron, Jo, Callewaert, Bert, Vanakker, Olivier, Menten, Björn

المصدر: EUROPEAN JOURNAL OF HUMAN GENETICS ; ISSN: 1018-4813 ; ISSN: 1476-5438

Relation: https://biblio.ugent.be/publication/01JHFB3XFPS13XZY7NRRVAJVYZ

الاتاحة: https://biblio.ugent.be/publication/01JHFB3XFPS13XZY7NRRVAJVYZ
http://hdl.handle.net/1854/LU-01JHFB3XFPS13XZY7NRRVAJVYZ

المؤلفون: Genetica, Genetica Klinische Genetica, Genetica Sectie Genoomdiagnostiek, Child Health, Tessarech, Marine, Friocourt, Gaëlle, Marguet, Florent, Lecointre, Maryline, Le Mao, Morgane, Díaz, Rodrigo Muñoz, Mignot, Cyril, Keren, Boris, Héron, Bénédicte, De Bie, Charlotte, Van Gassen, Koen, Loisel, Didier, Delorme, Benoit, Syrbe, Steffen, Klabunde-Cherwon, Annick, Jamra, Rami Abou, Wegler, Meret, Callewaert, Bert, Dheedene, Annelies, Zidane-Marinnes, Merzouka, Guichet, Agnès, Bris, Céline, Van Bogaert, Patrick, Biquard, Florence, Lenaers, Guy, Marcorelles, Pascale, Ferec, Claude, Gonzalez, Bruno, Procaccio, Vincent, Vitobello, Antonio, Bonneau, Dominique, Laquerriere, Annie, Khiati, Salim, Colin, Estelle

URL: https://doi.org/10.1016/j.gim.2024.101087
http://hdl.handle.net/1874/454919
https://dspace.library.uu.nl/handle/1874/454919
http://www.scopus.com/inward/record.url?scp=85187541374&partnerID=8YFLogxK
1098-3600
Genetics in Medicine
26
5
101087

المؤلفون: De Haan, Willeke, Dheedene, Wouter, Apelt, Katerina, Décombas-Deschamps, Sofiane, Vinckier, Stefan, Verhulst, Stefaan, Conidi, Andrea, Deffieux, Thomas, Staring, Michael W., Vandervoort, Petra, Caluwé, Ellen, Lox, Marleen, Mannaerts, Inge, Takagi, Tsuyoshi, Jaekers, Joris, Berx, Geert, Haigh, Jody, Topal, Baki, Zwijsen, An, Higashi, Yujiro, Van Grunsven, Leo A., Van Ijcken, Wilfred F.J., Mulugeta, Eskeatnaf, Tanter, Mickael, Lebrin, Franck P.G., Huylebroeck, Danny, Luttun, Aernout

المصدر: De Haan , W , Dheedene , W , Apelt , K , Décombas-Deschamps , S , Vinckier , S , Verhulst , S , Conidi , A , Deffieux , T , Staring , M W , Vandervoort , P , Caluwé , E , Lox , M , Mannaerts , I , Takagi , T , Jaekers , J , Berx , G , Haigh , J , Topal , B , Zwijsen , A , Higashi , Y , Van Grunsven , L A , Van Ijcken , W F J , Mulugeta , E , ....

وصف الملف: application/pdf

الاتاحة: https://pure.eur.nl/en/publications/59c4eecc-dda7-45a2-8f69-b17870e01595
https://doi.org/10.1093/cvr/cvab148
https://pure.eur.nl/ws/files/80790249/Endothelial_Zeb2_preserves_the_hepatic_angioarchitecture_and_protects_against_liver_fibrosis.pdf
http://www.scopus.com/inward/record.url?scp=85127780121&partnerID=8YFLogxK

المؤلفون: Coursimault, Juliette, Guerrot, Anne-Marie, Morrow, Michelle, Schramm, Catherine, Zamora, Francisca Millan, Shanmugham, Anita, Liu, Shuxi, Zou, Fanggeng, Bilan, Frédéric, Le Guyader, Gwenaël, Bruel, Ange-Line, Denommé-Pichon, Anne-Sophie, Faivre, Laurence, Tran Mau-Them, Frédéric, Tessarech, Marine, Colin, Estelle, El Chehadeh, Salima, Gérard, Bénédicte, Schaefer, Elise, Cogne, Benjamin, Isidor, Bertrand, Nizon, Mathilde, Doummar, Diane, Valence, Stéphanie, Héron, Delphine, Keren, Boris, Mignot, Cyril, Coutton, Charles, Devillard, Françoise, Alaix, Anne-Sophie, Amiel, Jeanne, Colleaux, Laurence, Munnich, Arnold, Poirier, Karine, Rio, Marlène, Rondeau, Sophie, Barcia, Giulia, Callewaert, Bert, Dheedene, Annelies, Kumps, Candy, Vergult, Sarah, Menten, Björn, Chung, Wendy, Hernan, Rebecca, Larson, Austin, Nori, Kelly, Stewart, Sarah, Wheless, James, Kresge, Christina, Pletcher, Beth, Caumes, Roseline, Smol, Thomas, Sigaudy, Sabine, Coubes, Christine, Helm, Margaret, Smith, Rosemarie, Morrison, Jennifer, Wheeler, Patricia, Kritzer, Amy, Jouret, Guillaume, Afenjar, Alexandra, Deleuze, Jean-François, Olaso, Robert, Boland, Anne, Poitou, Christine, Frebourg, Thierry, Houdayer, Claude, Saugier-Veber, Pascale, Nicolas, Gaël, Lecoquierre, François

المساهمون: Université de Rouen Normandie (UNIROUEN), Normandie Université (NU), GeneDx Gaithersburg, MD, USA, Centre hospitalier universitaire de Poitiers = Poitiers University Hospital (CHU de Poitiers La Milétrie ), Université Bourgogne Franche-Comté COMUE (UBFC), Centre Hospitalier Universitaire d'Angers (CHU Angers), PRES Université Nantes Angers Le Mans (UNAM), Institut de génétique médicale d’Alsace (IGMA), Les Hôpitaux Universitaires de Strasbourg (HUS), Centre Hospitalier Universitaire de Nantes = Nantes University Hospital (CHU Nantes), Hôpital Trousseau, Centre Hospitalier Régional Universitaire de Tours (CHRU Tours), Sorbonne Université (SU), Institute for Advanced Biosciences / Institut pour l'Avancée des Biosciences (Grenoble) (IAB), Centre Hospitalier Universitaire CHU Grenoble (CHUGA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Etablissement français du sang - Auvergne-Rhône-Alpes (EFS)-Centre National de la Recherche Scientifique (CNRS)-Université Grenoble Alpes (UGA), Centre Hospitalier Universitaire CHU Grenoble (CHUGA), Institut Necker Enfants-Malades (INEM - UM 111 (UMR 8253 / U1151)), Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université Paris Cité (UPCité), 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), Imagine - Institut des maladies génétiques (IMAGINE - U1163), Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Ghent University Hospital, Columbia University Irving Medical Center (CUIMC), University of Colorado Anschutz Aurora, University of Tennessee System, Rutgers New Jersey Medical School (NJMS), Rutgers University System (Rutgers), Université de Lille, Hôpital de la Timone CHU - APHM (TIMONE), CHU Montpellier, Centre Hospitalier Régional Universitaire Montpellier (CHRU Montpellier), Maine Medical Center, Arnold Palmer Hospital, Boston Children's Hospital, National Center of Genetics, Centre National de Recherche en Génomique Humaine (CNRGH), Institut de Biologie François JACOB (JACOB), Direction de Recherche Fondamentale (CEA) (DRF (CEA)), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Direction de Recherche Fondamentale (CEA) (DRF (CEA)), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA), CHU Pitié-Salpêtrière AP-HP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), ANR-10-INBS-0009,France Génomique,Organisation et montée en puissance d'une Infrastructure Nationale de Génomique(2010)

المصدر: ISSN: 0340-6717.

مصطلحات موضوعية: MESH: Adolescent, MESH: Adult, MESH: Obesity, MESH: Phenotype, MESH: Transcription Factors, MESH: Young Adult, MESH: Child, Preschool, MESH: Epilepsy, MESH: Feeding and Eating Disorders, MESH: Female, MESH: Genetic Association Studies, MESH: Genetic Variation, MESH: Heterozygote, MESH: Humans, MESH: Infant, MESH: Language Development Disorders, MESH: Male, MESH: Nerve Tissue Proteins, MESH: Neurodevelopmental Disorders, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics

Relation: info:eu-repo/semantics/altIdentifier/pmid/34748075; PUBMED: 34748075

الاتاحة: https://hal.science/hal-03820933
https://hal.science/hal-03820933v1/document
https://hal.science/hal-03820933v1/file/Myt1l.pdf
https://doi.org/10.1007/s00439-021-02383-z

المؤلفون: D'haenens, Erika, Vergult, Sarah, Menten, Björn, Dheedene, Annelies, Kooy, Frank, Callewaert, Bert

المصدر: 2073-4425 ; Genes

مصطلحات موضوعية: Human medicine

Relation: info:eu-repo/semantics/altIdentifier/isi/000785505200001

الاتاحة: https://hdl.handle.net/10067/1879400151162165141
https://repository.uantwerpen.be/docstore/d:irua:12103

المؤلفون: Erika D’haenens, Sarah Vergult, Björn Menten, Annelies Dheedene, R. Frank Kooy, Bert Callewaert

المصدر: Genes, Vol 13, Iss 694, p 694 (2022)

مصطلحات موضوعية: B3GLANT2, dystroglycanopathies, congenital muscular dystrophy, muscle–eye–brain disease, Walker–Warburg syndrome, Fukuyama congenital muscular dystrophy, Genetics, QH426-470

Relation: https://www.mdpi.com/2073-4425/13/4/694; https://doaj.org/toc/2073-4425; https://doaj.org/article/14e15c49b0804b6b96c3a390b359ab90

الاتاحة: https://doi.org/10.3390/genes13040694
https://doaj.org/article/14e15c49b0804b6b96c3a390b359ab90

المؤلفون: Van Loy, Tom, De Jonghe, Steven, Castermans, Karolien, Dheedene, Wouter, Stoop, Reinout, Verschuren, Lars, Versele, Matthias, Chaltin, Patrick, Luttun, Aernout, Schols, Dominique

المصدر: Cellular and Molecular Life Sciences ; volume 79, issue 6 ; ISSN 1420-682X 1420-9071

الاتاحة: http://dx.doi.org/10.1007/s00018-022-04317-y
https://link.springer.com/content/pdf/10.1007/s00018-022-04317-y.pdf
https://link.springer.com/article/10.1007/s00018-022-04317-y/fulltext.html