Αποτελέσματα αναζήτησης - M. C. E. Jansweijer
- Εμφανίζονται 1 - 4 Αποτελέσματα από 4
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Novel and recurrent TRPV4 mutations and their association with distinct phenotypes within the TRPV4 dysplasia family από Jin Dai, O.-H. Kim, T.-J. Cho, Maren Schmidt‐Rimpler, H. Tonoki, Kazuharu Takikawa, Nobuhiko Haga, K. Miyoshi, Hiroshi Kitoh, Won Joon Yoo, In Ho Choi, Hae‐Ryong Song, Dong‐Kyu Jin, H. T. Kim, Hotaka Kamasaki, Paola Bianchi, Giedre Grigelioniené, Sheela Nampoothiri, Masahiro Minagawa, Shinichirou Miyagawa, Toshiyuki Fukao, Carlo Marcelis, M. C. E. Jansweijer, R Hennekam, F. Bedeschi, Aki Mustonen, Qing Jiang, Hirofumi Ohashi, Tatsuya Furuichi, Sheila Unger, Bernhard Zabel, Ekkehart Lausch, Andrea Superti‐Furga, Gen Nishimura, Shiro Ikegawa
Έκδοση 2010Artigo -
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Meier–Gorlin syndrome genotype–phenotype studies: 35 individuals with pre-replication complex gene mutations and 10 without molecular diagnosis από Sonja A. de Munnik, Louise S. Bicknell, Salim Aftimos, Jumana Y. Al‐Aama, Yolande van Bever, Michael B. Bober, Jill Clayton‐Smith, Alaa Edrees, Murray Feingold, Alan Fryer, Johanna M. van Hagen, Raoul C. M. Hennekam, M. C. E. Jansweijer, Diana Johnson, Sarina G. Kant, John M. Opitz, A. Radha Ramadevi, William Reardon, Alison Ross, Pierre Sarda, C. T. R. M. Schrander‐Stumpel, Jeroen Schoots, I. Karen Temple, Paulien A. Terhal, Annick Toutain, Carol A. Wise, Michael Wright, David Skidmore, Mark E. Samuels, Lies H. Hoefsloot, Nine Knoers, Han G. Brunner, Andrew P. Jackson, Ernie M.H.F. Bongers
Έκδοση 2012Artigo -
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Meier–Gorlin syndrome: Growth and secondary sexual development of a microcephalic primordial dwarfism disorder από Sonja A. de Munnik, Barto J. Otten, Jeroen Schoots, Louise S. Bicknell, Salim Aftimos, Jumana Y. Al‐Aama, Yolande van Bever, Michael B. Bober, George F. Borm, Jill Clayton‐Smith, Cheri Deal, Alaa Edrees, Murray Feingold, Alan Fryer, Johanna M. van Hagen, Raoul C. M. Hennekam, M. C. E. Jansweijer, Diana Johnson, Sarina G. Kant, John M. Opitz, A. Radha Ramadevi, William Reardon, Alison Ross, Pierre Sarda, C. T. R. M. Schrander‐Stumpel, A. Erik Sluiter, I. Karen Temple, Paulien A. Terhal, Annick Toutain, Carol A. Wise, Michael Wright, David Skidmore, Mark E. Samuels, Lies H. Hoefsloot, Nine Knoers, Han G. Brunner, Andrew P. Jackson, Ernie M.H.F. Bongers
Έκδοση 2012Artigo
Εργαλεία αναζήτησης:
Σχετικά θέματα
Biology
Gene
Genetics
Endocrinology
Internal medicine
Medicine
Phenotype
Anatomy
Checklist
Chromosome
Compound heterozygosity
Cytogenetics
Dwarfism
Exon
Genotype
Hypoplasia
Ion channel
Materials science
Metallurgy
Missense mutation
Molecular biology
Mutation
Neuroimaging
Paleontology
Pathology
Point mutation
Proband
Psychiatry
Receptor
Short stature