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American Journal of Medical Genetics. Part A
|
November 15, 2007
Encephalocraniocutaneous lipomatosis accompanied by the formation of bone cysts: Harboring clues to pathogenesis?
Ute Moog, Filip Roelens, Geert R Mortier, et al.
Brain & Development
|
December 27, 2005
MECP2 mutations are an infrequent cause of mental retardation associated with neurological problems in male patients
Ute Moog, Kees Van Roozendaal, Eric Smeets, et al.
Familial Cancer
|
November 14, 2016
Double germline mutations in APC and BRCA2 in an individual with a pancreatic tumor
Caroline Goehringer, Christian Sutter, Matthias Kloor, et al.
American Journal of Medical Genetics. Part A
|
January 29, 2011
Intragenic deletions of IL1RAPL1: Report of two cases and review of the literature
Anne Behnecke, Katrin Hinderhofer, Oliver Bartsch, et al.
European Journal of Human Genetics : EJHG
|
March 26, 2015
SIPA1L3 identified by linkage analysis and whole-exome sequencing as a novel gene for autosomal recessive congenital cataract
Christina Evers, Nagarajan Paramasivam, Katrin Hinderhofer, et al.
American Journal of Medical Genetics. Part A
|
September 27, 2014
Mosaic deletion of EXOC6B: further evidence for an important role of the exocyst complex in the pathogenesis of intellectual disability
Christina Evers, Bianca Maas, Karin A Koch, et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
|
July 21, 2007
Is Sanfilippo type B in your mind when you see adults with mental retardation and behavioral problems?
Ute Moog, Ingrid van Mierlo, Henny M J van Schrojenstein Lantman-de Valk, et al.
American Journal of Medical Genetics. Part A
|
February 19, 2015
Duplication Xp11.22-p14 in females: does X-inactivation help in assessing their significance?
Christina Evers, Diana Mitter, Gertrud Strobl-Wildemann, et al.
American Journal of Medical Genetics. Part A
|
May 11, 2017
Diagnosis of CoPAN by whole exome sequencing: Waking up a sleeping tiger's eye
Christina Evers, Angelika Seitz, Birgit Assmann, et al.
BMJ Case Reports
|
July 4, 2012
Warty skin changes, chronic scrotal lymphoedema, and facial dysmorphism
Moritz Felcht, Nicola Dikow, Matthias Goebeler, et al.
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of 8
Search research articles
Search
Showing results (31-40 of 79) with videos related to
Sort By:
Page
of 8
American Journal of Medical Genetics. Part A
|
November 15, 2007
Encephalocraniocutaneous lipomatosis accompanied by the formation of bone cysts: Harboring clues to pathogenesis?
Ute Moog, Filip Roelens, Geert R Mortier, et al.
Brain & Development
|
December 27, 2005
MECP2 mutations are an infrequent cause of mental retardation associated with neurological problems in male patients
Ute Moog, Kees Van Roozendaal, Eric Smeets, et al.
Familial Cancer
|
November 14, 2016
Double germline mutations in APC and BRCA2 in an individual with a pancreatic tumor
Caroline Goehringer, Christian Sutter, Matthias Kloor, et al.
American Journal of Medical Genetics. Part A
|
January 29, 2011
Intragenic deletions of IL1RAPL1: Report of two cases and review of the literature
Anne Behnecke, Katrin Hinderhofer, Oliver Bartsch, et al.
European Journal of Human Genetics : EJHG
|
March 26, 2015
SIPA1L3 identified by linkage analysis and whole-exome sequencing as a novel gene for autosomal recessive congenital cataract
Christina Evers, Nagarajan Paramasivam, Katrin Hinderhofer, et al.
American Journal of Medical Genetics. Part A
|
September 27, 2014
Mosaic deletion of EXOC6B: further evidence for an important role of the exocyst complex in the pathogenesis of intellectual disability
Christina Evers, Bianca Maas, Karin A Koch, et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
|
July 21, 2007
Is Sanfilippo type B in your mind when you see adults with mental retardation and behavioral problems?
Ute Moog, Ingrid van Mierlo, Henny M J van Schrojenstein Lantman-de Valk, et al.
American Journal of Medical Genetics. Part A
|
February 19, 2015
Duplication Xp11.22-p14 in females: does X-inactivation help in assessing their significance?
Christina Evers, Diana Mitter, Gertrud Strobl-Wildemann, et al.
American Journal of Medical Genetics. Part A
|
May 11, 2017
Diagnosis of CoPAN by whole exome sequencing: Waking up a sleeping tiger's eye
Christina Evers, Angelika Seitz, Birgit Assmann, et al.
BMJ Case Reports
|
July 4, 2012
Warty skin changes, chronic scrotal lymphoedema, and facial dysmorphism
Moritz Felcht, Nicola Dikow, Matthias Goebeler, et al.
Page
of 8