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Molecular Genetics & Genomic Medicine
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January 29, 2024
Genotype-phenotype correlations in carriers of the PMS2 founder variant c.1831dup
Melanie Gass, Britta Seebauer, Aline Thommen, et al.
Neuromuscular Disorders : NMD
|
May 22, 2013
Quinine sulfate as a therapeutic option in a patient with slow channel congenital myasthenic syndrome
Anne-Kathrin Peyer, Angela Abicht, Karl Heinimann, et al.
International Journal of Colorectal Disease
|
November 2, 2012
Recurrent desmoids determine outcome in patients with Gardner syndrome: a cohort study of three generations of an APC mutation-positive family across 30 years
Matthias Turina, Caroline Marianne Pavlik, Karl Heinimann, et al.
The Laryngoscope
|
February 17, 2006
A de novo PABPN1 germline mutation in a patient with oculopharyngeal muscular dystrophy
Nicolas Gürtler, Martina Plasilova, Mihael Podvinec, et al.
European Journal of Human Genetics : EJHG
|
March 24, 2020
How the "control-fate continuum" helps explain the genetic testing decision-making process: a grounded theory study
Bettina M Zimmermann, David Shaw, Karl Heinimann, et al.
The American Journal of Surgical Pathology
|
May 1, 2010
VHL-gene deletion in single renal tubular epithelial cells and renal tubular cysts: further evidence for a cyst-dependent progression pathway of clear cell renal carcinoma in von Hippel-Lindau disease
Matteo Montani, Karl Heinimann, Adriana von Teichman, et al.
Journal of Neuro-Oncology
|
May 22, 2017
TRPS1 gene alterations in human subependymoma
Sascha B Fischer, Michelle Attenhofer, Sakir H Gultekin, et al.
Prenatal Diagnosis
|
February 26, 2011
aCGH on chorionic villi mirrors the complexity of fetoplacental mosaicism in prenatal diagnosis
Isabel Filges, Anjeung Kang, Vanessa Klug, et al.
Familial Cancer
|
November 18, 2008
Concordant colon tumors in monozygotic twins previously treated for prostate cancer
Arnoud Templeton, Giancarlo Marra, Emanuele Valtorta, et al.
Genes, Chromosomes & Cancer
|
October 29, 2011
Evidence for breast cancer as an integral part of Lynch syndrome
Nicole Buerki, Lucienne Gautier, Michal Kovac, et al.
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of 10
Search research articles
Search
Showing results (11-20 of 99) with videos related to
Sort By:
Page
of 10
Molecular Genetics & Genomic Medicine
|
January 29, 2024
Genotype-phenotype correlations in carriers of the PMS2 founder variant c.1831dup
Melanie Gass, Britta Seebauer, Aline Thommen, et al.
Neuromuscular Disorders : NMD
|
May 22, 2013
Quinine sulfate as a therapeutic option in a patient with slow channel congenital myasthenic syndrome
Anne-Kathrin Peyer, Angela Abicht, Karl Heinimann, et al.
International Journal of Colorectal Disease
|
November 2, 2012
Recurrent desmoids determine outcome in patients with Gardner syndrome: a cohort study of three generations of an APC mutation-positive family across 30 years
Matthias Turina, Caroline Marianne Pavlik, Karl Heinimann, et al.
The Laryngoscope
|
February 17, 2006
A de novo PABPN1 germline mutation in a patient with oculopharyngeal muscular dystrophy
Nicolas Gürtler, Martina Plasilova, Mihael Podvinec, et al.
European Journal of Human Genetics : EJHG
|
March 24, 2020
How the "control-fate continuum" helps explain the genetic testing decision-making process: a grounded theory study
Bettina M Zimmermann, David Shaw, Karl Heinimann, et al.
The American Journal of Surgical Pathology
|
May 1, 2010
VHL-gene deletion in single renal tubular epithelial cells and renal tubular cysts: further evidence for a cyst-dependent progression pathway of clear cell renal carcinoma in von Hippel-Lindau disease
Matteo Montani, Karl Heinimann, Adriana von Teichman, et al.
Journal of Neuro-Oncology
|
May 22, 2017
TRPS1 gene alterations in human subependymoma
Sascha B Fischer, Michelle Attenhofer, Sakir H Gultekin, et al.
Prenatal Diagnosis
|
February 26, 2011
aCGH on chorionic villi mirrors the complexity of fetoplacental mosaicism in prenatal diagnosis
Isabel Filges, Anjeung Kang, Vanessa Klug, et al.
Familial Cancer
|
November 18, 2008
Concordant colon tumors in monozygotic twins previously treated for prostate cancer
Arnoud Templeton, Giancarlo Marra, Emanuele Valtorta, et al.
Genes, Chromosomes & Cancer
|
October 29, 2011
Evidence for breast cancer as an integral part of Lynch syndrome
Nicole Buerki, Lucienne Gautier, Michal Kovac, et al.
Page
of 10