PMC Links for Books (Select 2476132) - PMC

Select item 74972891.

The Human Gene Mutation Database (HGMD^®): optimizing its use in a clinical diagnostic or research setting

Peter D. Stenson, Matthew Mort, Edward V. Ball, Molly Chapman, Katy Evans, Luisa Azevedo, Matthew Hayden, Sally Heywood, David S. Millar, Andrew D. Phillips, David N. Cooper

Hum Genet. 2020; 139(10): 1197–1207. Published online 2020 Jun 28. doi: 10.1007/s00439-020-02199-3

PMCID:: PMC7497289

Abstract Article PDF–2.5M

Select item 67322922.

Phenotypic severity in a family with MEND syndrome is directly associated with the accumulation of potentially functional variants of cholesterol homeostasis genes

María Carmen Barboza‐Cerda, Oralia Barboza‐Quintana, Gerardo Martínez‐Aldape, Raquel Garza‐Guajardo, Miguel Angel Déctor

Mol Genet Genomic Med. 2019 Sep; 7(9): e931. Published online 2019 Aug 8. doi: 10.1002/mgg3.931

PMCID:: PMC6732292

Abstract Article PDF–816K

Select item 62440793.

New splicing pathogenic variant in EBP causing extreme familial variability of Conradi–Hünermann–Happle Syndrome

Mathilde Pacault, Marie Vincent, Thomas Besnard, Caroline Kannengiesser, Claire Bénéteau, Sébastien Barbarot, Xénia Latypova, Khaldia Belabbas, Antonin Lamazière, Norbert Winer, Madeleine Joubert, Stéphane Bézieau, Bertrand Isidor, Sandra Mercier, Mathilde Nizon, Stéphanie Leclerc-Mercier, Smail Hadj-Rabia, Fabienne Dufernez

Eur J Hum Genet. 2018 Dec; 26(12): 1784–1790. Published online 2018 Aug 22. doi: 10.1038/s41431-018-0217-0

PMCID:: PMC6244079

Abstract Article PDF–712K

Select item 43729584.

Emopamil Binding Protein Mutation in Conradi-Hünermann-Happle Syndrome Representing Plaque-Type Psoriasis

Kemal Ozyurt, Asli Subasioglu, Perihan Ozturk, Rahime Inci, Fuat Ozkan, Elena Bueno, Javier Cañueto, Rogelio González Sarmiento

Indian J Dermatol. 2015 Mar-Apr; 60(2): 216. doi: 10.4103/0019-5154.152570

PMCID:: PMC4372958

Abstract Article

Select item 39650325.

ClinVar: public archive of relationships among sequence variation and human phenotype

Melissa J. Landrum, Jennifer M. Lee, George R. Riley, Wonhee Jang, Wendy S. Rubinstein, Deanna M. Church, Donna R. Maglott

Nucleic Acids Res. 2014 Jan 1; 42(Database issue): D980–D985. Published online 2013 Nov 14. doi: 10.1093/nar/gkt1113

PMCID:: PMC3965032

Abstract Article PDF–3.1M

PMC

Result Filters

Article attributes

Text availability

Publication date

Custom date range

Research Funder

Additional filters

Display Settings:

Send to:

Links from Books

Items: 5

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity