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Acta Neurologica Belgica
|
February 26, 2009
Recurrent post-infectious rhabdomyolysis in muscle CPT-II deficiency caused by a novel missense mutation
Jelle van den Ameele, William Van Landegem, Wim Wuyts, et al.
European Journal of Human Genetics : EJHG
|
November 29, 2012
A new double substitution mutation in the MEN1 gene: a limited penetrance and a specific phenotype
Urielle Ullmann, David Unuane, Brigitte Velkeniers, et al.
European Journal of Pediatrics
|
August 16, 2003
Solitary thyroid nodule as presenting symptom of Pendred syndrome caused by a novel splice-site mutation in intron 8 of the SLC26A4 gene
Guy Massa, Nele Jaenen, Sebastien Janssens de Varebeke, et al.
Lung
|
November 15, 2012
Diagnostic workup for diffuse parenchymal lung disease: schematic flowchart, literature review, and pitfalls
Barbara Deconinck, Johny Verschakelen, Johan Coolen, et al.
Respirology Case Reports
|
September 23, 2015
Difficulties in diagnosis of systemic sclerosis-related interstitial lung disease
Anniek Vrancken, Ellen De Langhe, Rene Westhovens, et al.
American Journal of Medical Genetics. Part A
|
March 29, 2005
Somatic and gonadal mosaicism in Hutchinson-Gilford progeria
Wim Wuyts, Martine Biervliet, Edwin Reyniers, et al.
Clinical Genetics
|
December 18, 2023
RUNX2-related metaphyseal dysplasia with maxillary hypoplasia: A rare skeletal disorder resembling SFRP4-related Pyle disease
Ewa Hordyjewska-Kowalczyk, Wim Wuyts, Nele Boeckx, et al.
The Journal of Molecular Diagnostics : JMD
|
January 1, 2008
Mutation screening of EXT1 and EXT2 by denaturing high-performance liquid chromatography, direct sequencing analysis, fluorescence in situ hybridization, and a new multiplex ligation-dependent probe amplification probe set in patients with multiple osteochondromas
Ivy Jennes, Mark M Entius, Els Van Hul, et al.
American Journal of Medical Genetics. Part A
|
January 8, 2005
Myopathy and phosphorylase kinase deficiency caused by a mutation in the PHKA1 gene
Wim Wuyts, Edwin Reyniers, Chantal Ceuterick, et al.
Thorax
|
August 7, 2012
Extrapulmonary lymphangioleiomyomatosis: a wolf in sheep's clothing
Aurélie Maria Derweduwen, Erik Verbeken, Marguerite Stas, et al.
Page
of 14
Search research articles
Search
Showing results (21-30 of 135) with videos related to
Sort By:
Page
of 14
Acta Neurologica Belgica
|
February 26, 2009
Recurrent post-infectious rhabdomyolysis in muscle CPT-II deficiency caused by a novel missense mutation
Jelle van den Ameele, William Van Landegem, Wim Wuyts, et al.
European Journal of Human Genetics : EJHG
|
November 29, 2012
A new double substitution mutation in the MEN1 gene: a limited penetrance and a specific phenotype
Urielle Ullmann, David Unuane, Brigitte Velkeniers, et al.
European Journal of Pediatrics
|
August 16, 2003
Solitary thyroid nodule as presenting symptom of Pendred syndrome caused by a novel splice-site mutation in intron 8 of the SLC26A4 gene
Guy Massa, Nele Jaenen, Sebastien Janssens de Varebeke, et al.
Lung
|
November 15, 2012
Diagnostic workup for diffuse parenchymal lung disease: schematic flowchart, literature review, and pitfalls
Barbara Deconinck, Johny Verschakelen, Johan Coolen, et al.
Respirology Case Reports
|
September 23, 2015
Difficulties in diagnosis of systemic sclerosis-related interstitial lung disease
Anniek Vrancken, Ellen De Langhe, Rene Westhovens, et al.
American Journal of Medical Genetics. Part A
|
March 29, 2005
Somatic and gonadal mosaicism in Hutchinson-Gilford progeria
Wim Wuyts, Martine Biervliet, Edwin Reyniers, et al.
Clinical Genetics
|
December 18, 2023
RUNX2-related metaphyseal dysplasia with maxillary hypoplasia: A rare skeletal disorder resembling SFRP4-related Pyle disease
Ewa Hordyjewska-Kowalczyk, Wim Wuyts, Nele Boeckx, et al.
The Journal of Molecular Diagnostics : JMD
|
January 1, 2008
Mutation screening of EXT1 and EXT2 by denaturing high-performance liquid chromatography, direct sequencing analysis, fluorescence in situ hybridization, and a new multiplex ligation-dependent probe amplification probe set in patients with multiple osteochondromas
Ivy Jennes, Mark M Entius, Els Van Hul, et al.
American Journal of Medical Genetics. Part A
|
January 8, 2005
Myopathy and phosphorylase kinase deficiency caused by a mutation in the PHKA1 gene
Wim Wuyts, Edwin Reyniers, Chantal Ceuterick, et al.
Thorax
|
August 7, 2012
Extrapulmonary lymphangioleiomyomatosis: a wolf in sheep's clothing
Aurélie Maria Derweduwen, Erik Verbeken, Marguerite Stas, et al.
Page
of 14