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NARA Subscribed9
Publisher
Springer Nature9
Journal
Human Genetics9
Publication Year
20021
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19995
19981
19971
M. Muenke results 9 · Newest (Page 1/1, per page 25)
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A loss-of-function mutation in the CFC domain of TDGF1 is associated with human forebrain defectsNARA Subscribed
Human Genetics · 2002 · Vol. 110 · Issue 5 · Springer
June M. de la Cruz; Richard N. Bamford; Rebecca D. Burdine; Erich Roessler; James A. Barkovich; Dian Donnai; Alexander F. Schier; Maximilian Muenke
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Identification of novel mutations in SHH and ZIC2 in a South American (ECLAMC) population with holoprosencephalyNARA Subscribed
Human Genetics · 2001 · Vol. 109 · Issue 1 · Springer
Iêda M. Orioli; Eduardo E. Castilla; Jeffrey E. Ming; Julio Nazer; Marcos J. Burle de Aguiar; Juan C. Llerena; Maximilian Muenke
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Genes and chromosomal breakpoints in the Langer-Giedion syndrome region on human chromosome 8NARA Subscribed
Human Genetics · 1999 · Vol. 105 · Issue 6 · Springer
H.-J. Lüdecke; O. Schmidt; J. Nardmann; D. von Holtum; P. Meinecke; M. Muenke; B. Horsthemke
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Genes and chromosomal breakpoints in the Langer-Giedion syndrome region on human chromosome 8NARA Subscribed
Human Genetics · 1999 · Vol. 105 · Issue 6 · Springer
H.-J. Lüdecke; O. Schmidt; J. Nardmann; D. von Holtum; P. Meinecke; M. Muenke; B. Horsthemke
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Structure of the human Lanosterol Synthase gene and its analysis as a candidate for holoprosencephaly ( HPE1 )NARA Subscribed
Human Genetics · 1999 · Vol. 105 · Issue 5 · Springer
E. Roessler; L. Mittaz; Y. Du; H.S. Scott; J. Chang; C. Rossier; M. Guipponi; S.P.T. Matsuda; M. Muenke; S.E. Antonarakis
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Structure of the human Lanosterol Synthase gene and its analysis as a candidate for holoprosencephaly (HPE1)NARA Subscribed
Human Genetics · 1999 · Vol. 105 · Issue 5 · Springer
E. Roessler; L. Mittaz; Y. Du; H.S. Scott; J. Chang; C. Rossier; M. Guipponi; S.P.T. Matsuda; M. Muenke; S.E. Antonarakis
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Analysis of the mutational spectrum of the FGFR2 gene in Pfeiffer syndromeNARA Subscribed
Human Genetics · 1999 · Vol. 104 · Issue 5 · Springer
Laura R. Cornejo-Roldan; Erich Roessler; M. Muenke
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Analysis of the human Sonic Hedgehog coding and promoter regions in sacral agenesis, triphalangeal thumb, and mirror polydactylyNARA Subscribed
Human Genetics · 1998 · Vol. 102 · Issue 4 · Springer
F. R. Vargas; E. Roessler; Karin Gaudenz; E. Belloni; Alexander S. Whitehead; Peader N. Kirke; James L. Mills; George Hooper; Roger E. Stevenson; Isabel Cordeiro; Patricia Correia; Temis Felix; Rani Gereige; Michael L. Cunningham; Sonia Canún; Stylianos E. Antonarakis; Tom Strachan; Lap-Chee Tsui; Stephen W. Scherer; M. Muenke
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Cytogenetic rearrangements involving the loss of the Sonic Hedgehog gene at 7q36 cause holoprosencephalyNARA Subscribed
Human Genetics · 1997 · Vol. 100 · Issue 2 · Springer
Erich Roessler; Deeann E. Ward; Karin Gaudenz; Elena Belloni; Steven W. Scherer; Dian Donnai; Jacqueline Siegel-Bartelt; Lap-Chee Tsui; M. Muenke
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