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American Journal of Human Genetics
|
April 22, 2014
Recurrent CNVs and SNVs at the NPHP1 locus contribute pathogenic alleles to Bardet-Biedl syndrome
Anna Lindstrand, Erica E Davis, Claudia M B Carvalho, et al.
Bioorganic & Medicinal Chemistry Letters
|
August 31, 2010
Switch control pocket inhibitors of p38-MAP kinase. Durable type II inhibitors that do not require binding into the canonical ATP hinge region
Yu Mi Ahn, Michael Clare, Carol L Ensinger, et al.
American Journal of Human Genetics
|
September 11, 2012
Exome sequencing and functional validation in zebrafish identify GTDC2 mutations as a cause of Walker-Warburg syndrome
M Chiara Manzini, Dimira E Tambunan, R Sean Hill, et al.
Cancer Cell
|
April 13, 2011
Conformational control inhibition of the BCR-ABL1 tyrosine kinase, including the gatekeeper T315I mutant, by the switch-control inhibitor DCC-2036
Wayne W Chan, Scott C Wise, Michael D Kaufman, et al.
American Journal of Medical Genetics. Part A
|
May 1, 2014
Clinical delineation and natural history of the PIK3CA-related overgrowth spectrum
Kim M Keppler-Noreuil, Julie C Sapp, Marjorie J Lindhurst, et al.
European Journal of Human Genetics : EJHG
|
February 20, 2009
A large-scale mutation search reveals genetic heterogeneity in 3M syndrome
Céline Huber, Anee-Lise Delezoide, Fabien Guimiot, et al.
Journal of Medical Genetics
|
July 29, 2021
O'Donnell-Luria-Rodan syndrome: description of a second multinational cohort and refinement of the phenotypic spectrum
Clara Velmans, Anne H O'Donnell-Luria, Emanuela Argilli, et al.
American Journal of Medical Genetics. Part A
|
June 28, 2023
Genomic analyses in Cornelia de Lange Syndrome and related diagnoses: Novel candidate genes, genotype-phenotype correlations and common mechanisms
Maninder Kaur, Justin Blair, Batsal Devkota, et al.
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Search research articles
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Showing results (51-60 of 58) with videos related to
Sort By:
Page
of 6
You have reached the last page of results.
This site can display upto 58 results.
American Journal of Human Genetics
|
April 22, 2014
Recurrent CNVs and SNVs at the NPHP1 locus contribute pathogenic alleles to Bardet-Biedl syndrome
Anna Lindstrand, Erica E Davis, Claudia M B Carvalho, et al.
Bioorganic & Medicinal Chemistry Letters
|
August 31, 2010
Switch control pocket inhibitors of p38-MAP kinase. Durable type II inhibitors that do not require binding into the canonical ATP hinge region
Yu Mi Ahn, Michael Clare, Carol L Ensinger, et al.
American Journal of Human Genetics
|
September 11, 2012
Exome sequencing and functional validation in zebrafish identify GTDC2 mutations as a cause of Walker-Warburg syndrome
M Chiara Manzini, Dimira E Tambunan, R Sean Hill, et al.
Cancer Cell
|
April 13, 2011
Conformational control inhibition of the BCR-ABL1 tyrosine kinase, including the gatekeeper T315I mutant, by the switch-control inhibitor DCC-2036
Wayne W Chan, Scott C Wise, Michael D Kaufman, et al.
American Journal of Medical Genetics. Part A
|
May 1, 2014
Clinical delineation and natural history of the PIK3CA-related overgrowth spectrum
Kim M Keppler-Noreuil, Julie C Sapp, Marjorie J Lindhurst, et al.
European Journal of Human Genetics : EJHG
|
February 20, 2009
A large-scale mutation search reveals genetic heterogeneity in 3M syndrome
Céline Huber, Anee-Lise Delezoide, Fabien Guimiot, et al.
Journal of Medical Genetics
|
July 29, 2021
O'Donnell-Luria-Rodan syndrome: description of a second multinational cohort and refinement of the phenotypic spectrum
Clara Velmans, Anne H O'Donnell-Luria, Emanuela Argilli, et al.
American Journal of Medical Genetics. Part A
|
June 28, 2023
Genomic analyses in Cornelia de Lange Syndrome and related diagnoses: Novel candidate genes, genotype-phenotype correlations and common mechanisms
Maninder Kaur, Justin Blair, Batsal Devkota, et al.
Page
of 6