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European Journal of Medical Genetics
|
August 3, 2010
Two cases of Noonan syndrome with severe respiratory and gastroenteral involvement and the SOS1 mutation F623I
Antonella Fabretto, Kerstin Kutsche, May-Britt Harmsen, et al.
Human Molecular Genetics
|
January 22, 2013
Functional analysis of a duplication (p.E63_D69dup) in the switch II region of HRAS: new aspects of the molecular pathogenesis underlying Costello syndrome
Sybille Lorenz, Christina Lissewski, Pelin O Simsek-Kiper, et al.
Human Molecular Genetics
|
December 14, 2006
Uniparental disomy at chromosome 11p15.5 followed by HRAS mutations in embryonal rhabdomyosarcoma: lessons from Costello syndrome
Christian P Kratz, Doris Steinemann, Charlotte M Niemeyer, et al.
European Journal of Human Genetics : EJHG
|
March 16, 2012
Neonatal progeria: increased ratio of progerin to lamin A leads to progeria of the newborn
Janine Reunert, Rüdiger Wentzell, Michael Walter, et al.
SAGE Open Medicine
|
May 2, 2022
Three-dimensional morphometric analysis of the lateral clavicle and acromion: Implications for surgical treatment using subacromial support
Martin Zenker, Javad Shamsollahi, André Galm, et al.
Clinical Dysmorphology
|
April 20, 2016
Transmission of Barber-Say syndrome from a mosaic father to his child in an Indian family
Ankur Singh, Denny Schanze, Neha Agarwal, et al.
Anticancer Research
|
May 31, 2022
Recurrent Mandibular Giant Cell Lesion in Neurofibromatosis Type 1: Second Hit Mutation on the <i>NF1</i> Gene in the Osseous Lesion
Reinhard E Friedrich, Andreas M Luebke, Ulrich Schüller, et al.
In Vivo (Athens, Greece)
|
February 24, 2021
<i>KRAS</i> Mutation in an Implant-associated Peripheral Giant Cell Granuloma of the Jaw: Implications of Genetic Analysis of the Lesion for Treatment Concept and Surveillance
Reinhard E Friedrich, Falk WÜsthoff, Andreas M Luebke, et al.
American Journal of Medical Genetics. Part A
|
August 2, 2019
Adams-Oliver syndrome caused by mutations of the EOGT gene
Kim C Schröder, Duygu Duman, Mustafa Tekin, et al.
American Journal of Medical Genetics. Part A
|
June 17, 2008
Johanson-Blizzard syndrome: report of a novel mutation and severe liver involvement
Mohammed S Al-Dosari, Saleh Al-Muhsen, Ayman Al-Jazaeri, et al.
Page
of 34
Search research articles
Search
Showing results (91-100 of 338) with videos related to
Sort By:
Page
of 34
European Journal of Medical Genetics
|
August 3, 2010
Two cases of Noonan syndrome with severe respiratory and gastroenteral involvement and the SOS1 mutation F623I
Antonella Fabretto, Kerstin Kutsche, May-Britt Harmsen, et al.
Human Molecular Genetics
|
January 22, 2013
Functional analysis of a duplication (p.E63_D69dup) in the switch II region of HRAS: new aspects of the molecular pathogenesis underlying Costello syndrome
Sybille Lorenz, Christina Lissewski, Pelin O Simsek-Kiper, et al.
Human Molecular Genetics
|
December 14, 2006
Uniparental disomy at chromosome 11p15.5 followed by HRAS mutations in embryonal rhabdomyosarcoma: lessons from Costello syndrome
Christian P Kratz, Doris Steinemann, Charlotte M Niemeyer, et al.
European Journal of Human Genetics : EJHG
|
March 16, 2012
Neonatal progeria: increased ratio of progerin to lamin A leads to progeria of the newborn
Janine Reunert, Rüdiger Wentzell, Michael Walter, et al.
SAGE Open Medicine
|
May 2, 2022
Three-dimensional morphometric analysis of the lateral clavicle and acromion: Implications for surgical treatment using subacromial support
Martin Zenker, Javad Shamsollahi, André Galm, et al.
Clinical Dysmorphology
|
April 20, 2016
Transmission of Barber-Say syndrome from a mosaic father to his child in an Indian family
Ankur Singh, Denny Schanze, Neha Agarwal, et al.
Anticancer Research
|
May 31, 2022
Recurrent Mandibular Giant Cell Lesion in Neurofibromatosis Type 1: Second Hit Mutation on the <i>NF1</i> Gene in the Osseous Lesion
Reinhard E Friedrich, Andreas M Luebke, Ulrich Schüller, et al.
In Vivo (Athens, Greece)
|
February 24, 2021
<i>KRAS</i> Mutation in an Implant-associated Peripheral Giant Cell Granuloma of the Jaw: Implications of Genetic Analysis of the Lesion for Treatment Concept and Surveillance
Reinhard E Friedrich, Falk WÜsthoff, Andreas M Luebke, et al.
American Journal of Medical Genetics. Part A
|
August 2, 2019
Adams-Oliver syndrome caused by mutations of the EOGT gene
Kim C Schröder, Duygu Duman, Mustafa Tekin, et al.
American Journal of Medical Genetics. Part A
|
June 17, 2008
Johanson-Blizzard syndrome: report of a novel mutation and severe liver involvement
Mohammed S Al-Dosari, Saleh Al-Muhsen, Ayman Al-Jazaeri, et al.
Page
of 34