Ngā hua rapu - Cobben, Jan-Maarten

Clinical utility gene card for: proximal spinal muscular atrophy mā Rudnik–Schöneborn, Sabine, Eggermann, Thomas, Kress, Wolfram, Lemmink, Henny H, Cobben, Jan-Maarten, Zerres, Klaus

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Coenzyme Q10 deficiency due to a COQ4 gene defect causes childhood-onset spinocerebellar ataxia and stroke-like episodes mā Bosch, Annet M., Kamsteeg, Erik-Jan, Rodenburg, Richard J., van Deutekom, Arend W., Buis, Dennis R., Engelen, Marc, Cobben, Jan-Maarten

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Opposite effects on facial morphology due to gene dosage sensitivity mā Hammond, Peter, McKee, Shane, Suttie, Michael, Allanson, Judith, Cobben, Jan-Maarten, Maas, Saskia M., Quarrell, Oliver, Smith, Ann C. M., Lewis, Suzanne, Tassabehji, May, Sisodiya, Sanjay, Mattina, Teresa, Hennekam, Raoul

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Using data from the 100,000 Genomes Project to resolve conflicting interpretations of a recurrent TUBB2A mutation mā Ragoussis, Vassilis, Pagnamenta, Alistair T, Haines, Rebecca L, Giacopuzzi, Edoardo, McClatchey, Martin A, Sampson, Julian R, Suri, Mohnish, Gardham, Alice, Cobben, Jan-Maarten, Osio, Deborah, Fry, Andrew E, Taylor, Jenny C

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Mutations in Histone Acetylase Modifier BRPF1 Cause an Autosomal-Dominant Form of Intellectual Disability with Associated Ptosis mā Mattioli, Francesca, Schaefer, Elise, Magee, Alex, Mark, Paul, Mancini, Grazia M., Dieterich, Klaus, Von Allmen, Gretchen, Alders, Marielle, Coutton, Charles, van Slegtenhorst, Marjon, Vieville, Gaëlle, Engelen, Mark, Cobben, Jan Maarten, Juusola, Jane, Pujol, Aurora, Mandel, Jean-Louis, Piton, Amélie

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Bohring–Opitz (Oberklaid–Danks) syndrome: clinical study, review of the literature, and discussion of possible pathogenesis mā Hastings, Rob, Cobben, Jan-Maarten, Gillessen-Kaesbach, Gabriele, Goodship, Judith, Hove, Hanne, Kjaergaard, Susanne, Kemp, Helena, Kingston, Helen, Lunt, Peter, Mansour, Sahar, McGowan, Ruth, Metcalfe, Kay, Murdoch-Davis, Catherine, Ray, Mary, Rio, Marlène, Smithson, Sarah, Tolmie, John, Turnpenny, Peter, van Bon, Bregje, Wieczorek, Dagmar, Newbury-Ecob, Ruth

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Mutations in EXTL3 Cause Neuro-immuno-skeletal Dysplasia Syndrome mā Oud, Machteld M., Tuijnenburg, Paul, Hempel, Maja, van Vlies, Naomi, Ren, Zemin, Ferdinandusse, Sacha, Jansen, Machiel H., Santer, René, Johannsen, Jessika, Bacchelli, Chiara, Alders, Marielle, Li, Rui, Davies, Rosalind, Dupuis, Lucie, Cale, Catherine M., Wanders, Ronald J.A., Pals, Steven T., Ocaka, Louise, James, Chela, Müller, Ingo, Lehmberg, Kai, Strom, Tim, Engels, Hartmut, Williams, Hywel J., Beales, Phil, Roepman, Ronald, Dias, Patricia, Brunner, Han G., Cobben, Jan-Maarten, Hall, Christine, Hartley, Taila, Le Quesne Stabej, Polona, Mendoza-Londono, Roberto, Davies, E. Graham, de Sousa, Sérgio B., Lessel, Davor, Arts, Heleen H., Kuijpers, Taco W.

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PURA syndrome: clinical delineation and genotype-phenotype study in 32 individuals with review of published literature mā Reijnders, Margot R F, Janowski, Robert, Alvi, Mohsan, Self, Jay E, van Essen, Ton J, Vreeburg, Maaike, Rouhl, Rob P W, Stevens, Servi J C, Stegmann, Alexander P A, Schieving, Jolanda, Pfundt, Rolph, van Dijk, Katinke, Smeets, Eric, Stumpel, Connie T R M, Bok, Levinus A, Cobben, Jan Maarten, Engelen, Marc, Mansour, Sahar, Whiteford, Margo, Chandler, Kate E, Douzgou, Sofia, Cooper, Nicola S, Tan, Ene-Choo, Foo, Roger, Lai, Angeline H M, Rankin, Julia, Green, Andrew, Lönnqvist, Tuula, Isohanni, Pirjo, Williams, Shelley, Ruhoy, Ilene, Carvalho, Karen S, Dowling, James J, Lev, Dorit L, Sterbova, Katalin, Lassuthova, Petra, Neupauerová, Jana, Waugh, Jeff L, Keros, Sotirios, Clayton-Smith, Jill, Smithson, Sarah F, Brunner, Han G, van Hoeckel, Ceciel, Anderson, Mel, Clowes, Virginia E, Siu, Victoria Mok, DDD study, The, Selber, Paulo, Leventer, Richard J, Nellaker, Christoffer, Niessing, Dierk, Hunt, David, Baralle, Diana

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