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HNO
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June 24, 2009
[Language development impairment and trisomy 8 mosaicism]
M Ptok, S Morlot
HNO
|
September 15, 2005
[Unilateral sensineural deafness associated with mutations in the PAX3-gene in Waardenburg syndrome type I]
M Ptok, S Morlot
HNO
|
June 13, 2006
[Speech impairment and the Smith-Magenis syndrome]
C Bergmann, S Morlot, M Ptok
Der Hautarzt; Zeitschrift Fur Dermatologie, Venerologie, Und Verwandte Gebiete
|
June 8, 2018
[Possibilities and limitations of molecular pathology in dermatohistology]
V Schacht, U Lehmann, T Reineke-Plaass, et al.
Human Reproduction (Oxford, England)
|
August 6, 2010
Array-CGH analysis in patients with syndromic and non-syndromic XY gonadal dysgenesis: evaluation of array CGH as diagnostic tool and search for new candidate loci
S Ledig, O Hiort, G Scherer, et al.
Clinical Genetics
|
September 13, 2006
Hereditary lymphedema type I associated with VEGFR3 mutation: the first de novo case and atypical presentations
A Ghalamkarpour, S Morlot, A Raas-Rothschild, et al.
Molecular Syndromology
|
August 3, 2012
Two Missense Mutations in the Primary Autosomal Recessive Microcephaly Gene MCPH1 Disrupt the Function of the Highly Conserved N-Terminal BRCT Domain of Microcephalin
M Ghani-Kakhki, P N Robinson, S Morlot, et al.
Clinical Genetics
|
February 23, 2018
Molecular and clinical studies in 8 patients with Temple syndrome
G Gillessen-Kaesbach, B Albrecht, T Eggermann, et al.
Balkan Journal of Medical Genetics : BJMG
|
November 23, 2013
Human Ring Chromosomes - New Insights for their Clinical Significance
Rs Guilherme, E Klein, Ab Hamid, et al.
Cytogenetic and Genome Research
|
March 2, 2012
Five novel locations of Neocentromeres in human: 18q22.1, Xq27.1∼27.2, Acro p13, Acro p12, and heterochromatin of unknown origin
E Klein, M Rocchi, A Ovens-Raeder, et al.
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of 2
Search research articles
Search
Showing results (1-10 of 13) with videos related to
Sort By:
Page
of 2
HNO
|
June 24, 2009
[Language development impairment and trisomy 8 mosaicism]
M Ptok, S Morlot
HNO
|
September 15, 2005
[Unilateral sensineural deafness associated with mutations in the PAX3-gene in Waardenburg syndrome type I]
M Ptok, S Morlot
HNO
|
June 13, 2006
[Speech impairment and the Smith-Magenis syndrome]
C Bergmann, S Morlot, M Ptok
Der Hautarzt; Zeitschrift Fur Dermatologie, Venerologie, Und Verwandte Gebiete
|
June 8, 2018
[Possibilities and limitations of molecular pathology in dermatohistology]
V Schacht, U Lehmann, T Reineke-Plaass, et al.
Human Reproduction (Oxford, England)
|
August 6, 2010
Array-CGH analysis in patients with syndromic and non-syndromic XY gonadal dysgenesis: evaluation of array CGH as diagnostic tool and search for new candidate loci
S Ledig, O Hiort, G Scherer, et al.
Clinical Genetics
|
September 13, 2006
Hereditary lymphedema type I associated with VEGFR3 mutation: the first de novo case and atypical presentations
A Ghalamkarpour, S Morlot, A Raas-Rothschild, et al.
Molecular Syndromology
|
August 3, 2012
Two Missense Mutations in the Primary Autosomal Recessive Microcephaly Gene MCPH1 Disrupt the Function of the Highly Conserved N-Terminal BRCT Domain of Microcephalin
M Ghani-Kakhki, P N Robinson, S Morlot, et al.
Clinical Genetics
|
February 23, 2018
Molecular and clinical studies in 8 patients with Temple syndrome
G Gillessen-Kaesbach, B Albrecht, T Eggermann, et al.
Balkan Journal of Medical Genetics : BJMG
|
November 23, 2013
Human Ring Chromosomes - New Insights for their Clinical Significance
Rs Guilherme, E Klein, Ab Hamid, et al.
Cytogenetic and Genome Research
|
March 2, 2012
Five novel locations of Neocentromeres in human: 18q22.1, Xq27.1∼27.2, Acro p13, Acro p12, and heterochromatin of unknown origin
E Klein, M Rocchi, A Ovens-Raeder, et al.
Page
of 2