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European Journal of Medical Genetics
|
January 19, 2010
Hyperphosphatasia with mental retardation, brachytelephalangy, and a distinct facial gestalt: Delineation of a recognizable syndrome
Denise Horn, Gudrun Schottmann, Peter Meinecke
Clinical Dysmorphology
|
December 17, 2004
A second case of Devriendt syndrome
Rainer Koenig, Peter Meinecke, Sigrun Fuchs
American Journal of Medical Genetics. Part A
|
January 18, 2005
A novel 9 bp deletion in the filamin a gene causes an otopalatodigital-spectrum disorder with a variable, intermediate phenotype
Margarita Stefanova, Peter Meinecke, Andreas Gal, et al.
American Journal of Medical Genetics. Part A
|
February 8, 2008
Expanded clinical spectrum of spondylocarpotarsal synostosis syndrome and possible manifestation in a heterozygous father
Diana Mitter, Deborah Krakow, Claire Farrington-Rock, et al.
American Journal of Medical Genetics. Part A
|
August 31, 2010
Wiedemann-Steiner syndrome: three further cases
Rainer Koenig, Peter Meinecke, Alma Kuechler, et al.
Clinical Dysmorphology
|
December 17, 2004
Familial megalencephaly with dilated Virchow-Robin spaces in magnetic resonance imaging: an autosomal recessive trait?
Christoph Härtel, Sandra Bachmann, Carsten Bönnemann, et al.
American Journal of Medical Genetics. Part A
|
July 9, 2011
Hyperphosphatasia-mental retardation syndrome due to PIGV mutations: expanded clinical spectrum
Denise Horn, Peter Krawitz, Anca Mannhardt, et al.
American Journal of Medical Genetics. Part A
|
April 22, 2022
Cardiofacioneurodevelopmental syndrome: Report of a novel patient and expansion of the phenotype
Ebtesam Abdalla, Malik Alawi, Peter Meinecke, et al.
BMC Medical Genetics
|
December 1, 2014
Expanded spectrum of exon 33 and 34 mutations in SRCAP and follow-up in patients with Floating-Harbor syndrome
Wenke Seifert, Peter Meinecke, Gabriele Krüger, et al.
Pediatrics
|
December 30, 2016
Acute Liver Failure Meets SOPH Syndrome: A Case Report on an Intermediate Phenotype
Fanny Kortüm, Iris Marquardt, Malik Alawi, et al.
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of 4
Search research articles
Search
Showing results (1-10 of 40) with videos related to
Sort By:
Page
of 4
European Journal of Medical Genetics
|
January 19, 2010
Hyperphosphatasia with mental retardation, brachytelephalangy, and a distinct facial gestalt: Delineation of a recognizable syndrome
Denise Horn, Gudrun Schottmann, Peter Meinecke
Clinical Dysmorphology
|
December 17, 2004
A second case of Devriendt syndrome
Rainer Koenig, Peter Meinecke, Sigrun Fuchs
American Journal of Medical Genetics. Part A
|
January 18, 2005
A novel 9 bp deletion in the filamin a gene causes an otopalatodigital-spectrum disorder with a variable, intermediate phenotype
Margarita Stefanova, Peter Meinecke, Andreas Gal, et al.
American Journal of Medical Genetics. Part A
|
February 8, 2008
Expanded clinical spectrum of spondylocarpotarsal synostosis syndrome and possible manifestation in a heterozygous father
Diana Mitter, Deborah Krakow, Claire Farrington-Rock, et al.
American Journal of Medical Genetics. Part A
|
August 31, 2010
Wiedemann-Steiner syndrome: three further cases
Rainer Koenig, Peter Meinecke, Alma Kuechler, et al.
Clinical Dysmorphology
|
December 17, 2004
Familial megalencephaly with dilated Virchow-Robin spaces in magnetic resonance imaging: an autosomal recessive trait?
Christoph Härtel, Sandra Bachmann, Carsten Bönnemann, et al.
American Journal of Medical Genetics. Part A
|
July 9, 2011
Hyperphosphatasia-mental retardation syndrome due to PIGV mutations: expanded clinical spectrum
Denise Horn, Peter Krawitz, Anca Mannhardt, et al.
American Journal of Medical Genetics. Part A
|
April 22, 2022
Cardiofacioneurodevelopmental syndrome: Report of a novel patient and expansion of the phenotype
Ebtesam Abdalla, Malik Alawi, Peter Meinecke, et al.
BMC Medical Genetics
|
December 1, 2014
Expanded spectrum of exon 33 and 34 mutations in SRCAP and follow-up in patients with Floating-Harbor syndrome
Wenke Seifert, Peter Meinecke, Gabriele Krüger, et al.
Pediatrics
|
December 30, 2016
Acute Liver Failure Meets SOPH Syndrome: A Case Report on an Intermediate Phenotype
Fanny Kortüm, Iris Marquardt, Malik Alawi, et al.
Page
of 4