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Pediatric Nephrology (Berlin, Germany)
|
August 8, 2015
Dealing with the incidental finding of secondary variants by the example of SRNS patients undergoing targeted next-generation sequencing
Stefanie Weber, Anja K Büscher, Henning Hagmann, et al.
Familial Cancer
|
July 31, 2021
Unusual phenotypes in patients with a pathogenic germline variant in DICER1
Kateryna Venger, Miriam Elbracht, Julia Carlens, et al.
Gut
|
July 17, 2014
Fucosyltransferase 2 (FUT2) non-secretor status and blood group B are associated with elevated serum lipase activity in asymptomatic subjects, and an increased risk for chronic pancreatitis: a genetic association study
Frank Ulrich Weiss, Claudia Schurmann, Annett Guenther, et al.
Human Mutation
|
October 13, 2018
Assessing the gene-disease association of 19 genes with the RASopathies using the ClinGen gene curation framework
Andrew R Grant, Brandon J Cushman, Hélène Cavé, et al.
Plos One
|
March 8, 2018
Generation of functional cardiomyocytes from rat embryonic and induced pluripotent stem cells using feeder-free expansion and differentiation in suspension culture
Julia Dahlmann, George Awad, Carsten Dolny, et al.
Orphanet Journal of Rare Diseases
|
December 19, 2018
Galloway-Mowat syndrome in Taiwan: OSGEP mutation and unique clinical phenotype
Pei-Yi Lin, Min-Hua Tseng, Martin Zenker, et al.
American Journal of Medical Genetics. Part A
|
February 25, 2015
Rapidly progressive hypertrophic cardiomyopathy in an infant with Noonan syndrome with multiple lentigines: palliative treatment with a rapamycin analog
Andreas Hahn, Jessica Lauriol, Josef Thul, et al.
European Journal of Human Genetics : EJHG
|
March 12, 2009
Goltz-Gorlin (focal dermal hypoplasia) and the microphthalmia with linear skin defects (MLS) syndrome: no evidence of genetic overlap
May-Britt Harmsen, Silvia Azzarello-Burri, M Mar García González, et al.
American Journal of Medical Genetics. Part A
|
October 5, 2019
ADA2 deficiency in a patient with Noonan syndrome-like disorder with loose anagen hair: The co-occurrence of two rare syndromes
Ozlem Akgun-Dogan, Pelin O Simsek-Kiper, Ekim Taskiran, et al.
American Journal of Medical Genetics. Part A
|
July 6, 2010
The face of Noonan syndrome: Does phenotype predict genotype
Judith E Allanson, Axel Bohring, Helmuth-Guenther Dörr, et al.
Page
of 34
Search research articles
Search
Showing results (201-210 of 338) with videos related to
Sort By:
Page
of 34
Pediatric Nephrology (Berlin, Germany)
|
August 8, 2015
Dealing with the incidental finding of secondary variants by the example of SRNS patients undergoing targeted next-generation sequencing
Stefanie Weber, Anja K Büscher, Henning Hagmann, et al.
Familial Cancer
|
July 31, 2021
Unusual phenotypes in patients with a pathogenic germline variant in DICER1
Kateryna Venger, Miriam Elbracht, Julia Carlens, et al.
Gut
|
July 17, 2014
Fucosyltransferase 2 (FUT2) non-secretor status and blood group B are associated with elevated serum lipase activity in asymptomatic subjects, and an increased risk for chronic pancreatitis: a genetic association study
Frank Ulrich Weiss, Claudia Schurmann, Annett Guenther, et al.
Human Mutation
|
October 13, 2018
Assessing the gene-disease association of 19 genes with the RASopathies using the ClinGen gene curation framework
Andrew R Grant, Brandon J Cushman, Hélène Cavé, et al.
Plos One
|
March 8, 2018
Generation of functional cardiomyocytes from rat embryonic and induced pluripotent stem cells using feeder-free expansion and differentiation in suspension culture
Julia Dahlmann, George Awad, Carsten Dolny, et al.
Orphanet Journal of Rare Diseases
|
December 19, 2018
Galloway-Mowat syndrome in Taiwan: OSGEP mutation and unique clinical phenotype
Pei-Yi Lin, Min-Hua Tseng, Martin Zenker, et al.
American Journal of Medical Genetics. Part A
|
February 25, 2015
Rapidly progressive hypertrophic cardiomyopathy in an infant with Noonan syndrome with multiple lentigines: palliative treatment with a rapamycin analog
Andreas Hahn, Jessica Lauriol, Josef Thul, et al.
European Journal of Human Genetics : EJHG
|
March 12, 2009
Goltz-Gorlin (focal dermal hypoplasia) and the microphthalmia with linear skin defects (MLS) syndrome: no evidence of genetic overlap
May-Britt Harmsen, Silvia Azzarello-Burri, M Mar García González, et al.
American Journal of Medical Genetics. Part A
|
October 5, 2019
ADA2 deficiency in a patient with Noonan syndrome-like disorder with loose anagen hair: The co-occurrence of two rare syndromes
Ozlem Akgun-Dogan, Pelin O Simsek-Kiper, Ekim Taskiran, et al.
American Journal of Medical Genetics. Part A
|
July 6, 2010
The face of Noonan syndrome: Does phenotype predict genotype
Judith E Allanson, Axel Bohring, Helmuth-Guenther Dörr, et al.
Page
of 34