Výsledky vyhledávání - Jan-Maarten Cobben

  • Zobrazuji výsledky 1 - 9 z 9
Upřesnit hledání
  1. 1
    Characterization of the split hand/split foot malformation locus SHFM1 at 7q21.3-q22.1 and analysis of a candidate gene for its expression during limb development

    Characterization of the split hand/split foot malformation locus SHFM1 at 7q21.3-q22.1 and analysis of a candidate gene for its expression during limb development Autor Michael A. Crackower, Stephen W. Scherer, Johanna M. Rommens, Chi Chung Hui, Parvoneh Poorkaj, Sylvia Soder, Jan Maarten Cobben, Louanne Hudgins, James P. Evans, Lap Chee Tsui

    Vydáno 1996
    Získat plný text
    Artigo
    Přidat do oblíbených
    Uloženo v:
  2. 2
    DNA Methylation Abundantly Associates with Fetal Alcohol Spectrum Disorder and its Subphenotypes

    DNA Methylation Abundantly Associates with Fetal Alcohol Spectrum Disorder and its Subphenotypes Autor Jan Maarten Cobben, I. Krzyzewska, Andrea Venema, Adri N. Mul, Abeltje M. Polstra, Alex V. Postma, Robert Śmigiel, Karolina Pesz, Jacek Nikliński, Monika Chomczyk, Peter Henneman, Marcel M.A.M. Mannens

    Vydáno 2019
    Získat plný text Získat plný text
    Artigo
    Přidat do oblíbených
    Uloženo v:
  3. 3
    Mutations in Histone Acetylase Modifier BRPF1 Cause an Autosomal-Dominant Form of Intellectual Disability with Associated Ptosis

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

    Vydáno 2016
    Získat plný text Získat plný text
    Artigo
    Přidat do oblíbených
    Uloženo v:
  4. 4
    Biallelic Mutations in UNC80 Cause Persistent Hypotonia, Encephalopathy, Growth Retardation, and Severe Intellectual Disability

    Biallelic Mutations in UNC80 Cause Persistent Hypotonia, Encephalopathy, Growth Retardation, and Severe Intellectual Disability Autor Asbjørg Stray‐Pedersen, Jan-Maarten Cobben, Trine Prescott, Sora Lee, Chunlei Cang, Kimberly Aranda, Sohnee Ahmed, Mariëlle Alders, Thorsten Gerstner, Kathinka Aslaksen, Martine Tétreault, Wen Qin, Taila Hartley, Shalini N. Jhangiani, Donna M. Muzny, Maja Tarailo‐Graovac, Clara van Karnebeek, James R. Lupski, Dejian Ren, Grace Yoon

    Vydáno 2015
    Získat plný text Získat plný text
    Artigo
    Přidat do oblíbených
    Uloženo v:
  5. 5
    CDC73-Related Disorders: Clinical Manifestations and Case Detection in Primary Hyperparathyroidism

    CDC73-Related Disorders: Clinical Manifestations and Case Detection in Primary Hyperparathyroidism Autor Karin van der Tuin, Carli M.J. Tops, Muriel A. Adank, Jan-Maarten Cobben, Neveen A. T. Hamdy, Marjolijn C.J. Jongmans, Fred H. Menko, Bernadette P. M. van Nesselrooij, Romana T. Netea‐Maier, Jan C. Oosterwijk, Gerlof D. Valk, Bruce H. R. Wolffenbuttel, Frederik J. Hes, Hans Morreau

    Vydáno 2017
    Získat plný text Získat plný text
    Artigo
    Přidat do oblíbených
    Uloženo v:
  6. 6
    Bohring–Opitz (Oberklaid–Danks) syndrome: clinical study, review of the literature, and discussion of possible pathogenesis

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

    Vydáno 2011
    Získat plný text Získat plný text
    Revisão
    Přidat do oblíbených
    Uloženo v:
  7. 7
    Mutations in EXTL3 Cause Neuro-immuno-skeletal Dysplasia Syndrome

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

    Vydáno 2017
    Získat plný text Získat plný text
    Artigo
    Přidat do oblíbených
    Uloženo v:
  8. 8
    Phenotype and genotype in 103 patients with tricho-rhino-phalangeal syndrome

    Phenotype and genotype in 103 patients with tricho-rhino-phalangeal syndrome Autor Saskia M. Maas, Adam Shaw, Hennie Bikker, H.-J. Lüdecke, Karin van der Tuin, Magdalena Badura‐Stronka, Elga Fabia Belligni, Elisa Biamino, Maria Teresa Bonati, Daniel R. Carvalho, Jan-Maarten Cobben, de Man, Nicolette S. den Hollander, Nataliya Di Donato, Livia Garavelli, Sabine Grønborg, Johanna C. Herkert, A. Jeannette M. Hoogeboom, Aleksander Jamsheer, Anna Latos‐Bieleńska, Anneke Maat‐Kievit, Cinzia Magnani, Carlo Marcelis, Inge B. Mathijssen, Maartje Nielsen, Ellen Otten, Lilian Bomme Ousager, Jacek Pilch, Astrid S. Plomp, Gemma Poke, Anna Poluha, Renata Posmyk, Claudine Rieubland, Margharita Silengo, Marleen Simon, Elisabeth Steichen, Connie T. R. M. Stumpel, Katalin Szakszon, Edit Polonkai, Jenneke van den Ende, Antony van der Steen, Ton van Essen, Arie van Haeringen, Johanna M. van Hagen, Joanne Verheij, Marcel M.A.M. Mannens, Raoul C. M. Hennekam

    Vydáno 2015
    Získat plný text
    Artigo
    Přidat do oblíbených
    Uloženo v:
  9. 9
    PURA syndrome: clinical delineation and genotype-phenotype study in 32 individuals with review of published literature

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

    Vydáno 2017
    Získat plný text Získat plný text
    Revisão
    Přidat do oblíbených
    Uloženo v:

Vyhledávací nástroje: