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Martine Biervliet

Showing results (1-10 of 9) with videos related to

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American Journal of Medical Genetics. Part A|March 29, 2005
Somatic and gonadal mosaicism in Hutchinson-Gilford progeriaWim Wuyts, Martine Biervliet, Edwin Reyniers, et al.
Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society|November 28, 2006
N1303K and IVS8-5T, clinical presentation within a family with atypical cystic fibrosisKim Van Hoorenbeeck, Katrien Storm, Jenneke van den Ende, et al.
American Journal of Medical Genetics. Part A|July 18, 2009
Oculocutaneous albinism type IV: A boy of Moroccan descent with a novel mutation in SLC45A2Takayuki Konno, Yuko Abe, Masakazu Kawaguchi, et al.
Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society|May 8, 2007
High incidence of the CFTR mutations 3272-26A-->G and L927P in Belgian cystic fibrosis patients, and identification of three new CFTR mutations (186-2A-->G, E588V, and 1671insTATCA)Katrien Storm, Els Moens, Lieve Vits, et al.
Human Molecular Genetics|September 18, 2012
Kinetochore KMN network gene CASC5 mutated in primary microcephalyAnne Genin, Julie Desir, Nelle Lambert, et al.
Circulation Journal : Official Journal of the Japanese Circulation Society|August 8, 2017
Prolonged Right Ventricular Ejection Delay in Brugada Syndrome Depends on the Type of SCN5A Variant　- Electromechanical Coupling Through Tissue Velocity Imaging as a Bridge Between Genotyping and PhenotypingSophie C H Van Malderen, Dorien Daneels, Dirk Kerkhove, et al.
American Journal of Human Genetics|September 15, 2015
Genetic Defects in TAPT1 Disrupt Ciliogenesis and Cause a Complex Lethal OsteochondrodysplasiaSofie Symoens, Aileen M Barnes, Charlotte Gistelinck, et al.
European Journal of Human Genetics : EJHG|August 22, 2008
The mutation spectrum in RECQL4 diseasesH Annika Siitonen, Jenni Sotkasiira, Martine Biervliet, et al.
European Journal of Human Genetics : EJHG|October 31, 2013
New ZMPSTE24 (FACE1) mutations in patients affected with restrictive dermopathy or related progeroid syndromes and mutation updateClaire Laure Navarro, Vera Esteves-Vieira, Sébastien Courrier, et al.
Pageof 1

Showing results (1-10 of 9) with videos related to

Sort By:
Pageof 1
American Journal of Medical Genetics. Part A|March 29, 2005
Somatic and gonadal mosaicism in Hutchinson-Gilford progeriaWim Wuyts, Martine Biervliet, Edwin Reyniers, et al.
Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society|November 28, 2006
N1303K and IVS8-5T, clinical presentation within a family with atypical cystic fibrosisKim Van Hoorenbeeck, Katrien Storm, Jenneke van den Ende, et al.
American Journal of Medical Genetics. Part A|July 18, 2009
Oculocutaneous albinism type IV: A boy of Moroccan descent with a novel mutation in SLC45A2Takayuki Konno, Yuko Abe, Masakazu Kawaguchi, et al.
Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society|May 8, 2007
High incidence of the CFTR mutations 3272-26A-->G and L927P in Belgian cystic fibrosis patients, and identification of three new CFTR mutations (186-2A-->G, E588V, and 1671insTATCA)Katrien Storm, Els Moens, Lieve Vits, et al.
Human Molecular Genetics|September 18, 2012
Kinetochore KMN network gene CASC5 mutated in primary microcephalyAnne Genin, Julie Desir, Nelle Lambert, et al.
Circulation Journal : Official Journal of the Japanese Circulation Society|August 8, 2017
Prolonged Right Ventricular Ejection Delay in Brugada Syndrome Depends on the Type of SCN5A Variant　- Electromechanical Coupling Through Tissue Velocity Imaging as a Bridge Between Genotyping and PhenotypingSophie C H Van Malderen, Dorien Daneels, Dirk Kerkhove, et al.
American Journal of Human Genetics|September 15, 2015
Genetic Defects in TAPT1 Disrupt Ciliogenesis and Cause a Complex Lethal OsteochondrodysplasiaSofie Symoens, Aileen M Barnes, Charlotte Gistelinck, et al.
European Journal of Human Genetics : EJHG|August 22, 2008
The mutation spectrum in RECQL4 diseasesH Annika Siitonen, Jenni Sotkasiira, Martine Biervliet, et al.
European Journal of Human Genetics : EJHG|October 31, 2013
New ZMPSTE24 (FACE1) mutations in patients affected with restrictive dermopathy or related progeroid syndromes and mutation updateClaire Laure Navarro, Vera Esteves-Vieira, Sébastien Courrier, et al.
Pageof 1