Works matching IS 10597794 AND DT 2015 AND VI 36 AND IP 5

Results: 12

Skipping Skin Disease.
Published in:
2015
By:
- Pellizzoni, Livio
Publication type:
Other
Loss-of-Function FANCL Mutations Associate with Severe Fanconi Anemia Overlapping the VACTERL Association.
Published in:
Human Mutation, 2015, v. 36, n. 5, p. 562, doi. 10.1002/humu.22784
By:
- Vetro, Annalisa;
- Iascone, Maria;
- Limongelli, Ivan;
- Ameziane, Najim;
- Gana, Simone;
- Mina, Erika Della;
- Giussani, Ursula;
- Ciccone, Roberto;
- Forlino, Antonella;
- Pezzoli, Laura;
- Rooimans, Martin A.;
- Essen, Antoni J.;
- Messa, Jole;
- Rizzuti, Tommaso;
- Bianchi, Paolo;
- Dorsman, Josephine;
- Winter, Johan P.;
- Lalatta, Faustina;
- Zuffardi, Orsetta
Publication type:
Article
Understanding the Implications of Mitochondrial DNA Variation in the Health of Black Southern African Populations: The 2014 Workshop.
Published in:
Human Mutation, 2015, v. 36, n. 5, p. 569, doi. 10.1002/humu.22789
By:
- van der Westhuizen, Francois H.;
- Sinxadi, Phumla Z.;
- Dandara, Collet;
- Smuts, Izelle;
- Riordan, Gillian;
- Meldau, Surita;
- Malik, Afshan N.;
- Sweeney, Mary G.;
- Tsai, Yuchia;
- Towers, Gordon W.;
- Louw, Roan;
- Gorman, Grainne S.;
- Payne, Brendan A.;
- Soodyall, Himla;
- Pepper, Michael S.;
- Elson, Joanna L.
Publication type:
Article
Contents.
Published in:
2015
Publication type:
Other
On Human Disease-Causing Amino Acid Variants: Statistical Study of Sequence and Structural Patterns.
Published in:
Human Mutation, 2015, v. 36, n. 5, p. 524, doi. 10.1002/humu.22770
By:
- Petukh, Marharyta;
- Kucukkal, Tugba G.;
- Alexov, Emil
Publication type:
Article
Exon-Specific U1s Correct SPINK 5 Exon 11 Skipping Caused by a Synonymous Substitution that Affects a Bifunctional Splicing Regulatory Element.
Published in:
Human Mutation, 2015, v. 36, n. 5, p. 504, doi. 10.1002/humu.22762
By:
- Dal Mas, Andrea;
- Fortugno, Paola;
- Donadon, Irving;
- Levati, Lauretta;
- Castiglia, Daniele;
- Pagani, Franco
Publication type:
Article
wKGGSeq: A Comprehensive Strategy-Based and Disease-Targeted Online Framework to Facilitate Exome Sequencing Studies of Inherited Disorders.
Published in:
Human Mutation, 2015, v. 36, n. 5, p. 496, doi. 10.1002/humu.22766
By:
- Li, Mulin Jun;
- Deng, Jiaen;
- Wang, Panwen;
- Yang, Wanling;
- Ho, Shu Leong;
- Sham, Pak Chung;
- Wang, Junwen;
- Li, Miaoxin
Publication type:
Article
The Evaluation of Tools Used to Predict the Impact of Missense Variants Is Hindered by Two Types of Circularity.
Published in:
Human Mutation, 2015, v. 36, n. 5, p. 513, doi. 10.1002/humu.22768
By:
- Grimm, Dominik G.;
- Azencott, Chloé‐Agathe;
- Aicheler, Fabian;
- Gieraths, Udo;
- MacArthur, Daniel G.;
- Samocha, Kaitlin E.;
- Cooper, David N.;
- Stenson, Peter D.;
- Daly, Mark J.;
- Smoller, Jordan W.;
- Duncan, Laramie E.;
- Borgwardt, Karsten M.
Publication type:
Article
Genetic Heterogeneity and Clinical Variability in Musculocontractural Ehlers-Danlos Syndrome Caused by Impaired Dermatan Sulfate Biosynthesis.
Published in:
Human Mutation, 2015, v. 36, n. 5, p. 535, doi. 10.1002/humu.22774
By:
- Syx, Delfien;
- Damme, Tim;
- Symoens, Sofie;
- Maiburg, Merel C.;
- Laar, Ingrid;
- Morton, Jenny;
- Suri, Mohnish;
- Del Campo, Miguel;
- Hausser, Ingrid;
- Hermanns‐Lê, Trinh;
- Paepe, Anne;
- Malfait, Fransiska
Publication type:
Article
Update and Mutational Analysis of SLC20A2: A Major Cause of Primary Familial Brain Calcification.
Published in:
Human Mutation, 2015, v. 36, n. 5, p. 489, doi. 10.1002/humu.22778
By:
- Lemos, Roberta R.;
- Ramos, Eliana M.;
- Legati, Andrea;
- Nicolas, Gaël;
- Jenkinson, Emma M.;
- Livingston, John H.;
- Crow, Yanick J.;
- Campion, Dominique;
- Coppola, Giovanni;
- Oliveira, João R. M.
Publication type:
Article
Expanding the Mutation Spectrum Affecting αIIbβ3 Integrin in Glanzmann Thrombasthenia: Screening of the ITGA2B and ITGB3 Genes in a Large International Cohort.
Published in:
Human Mutation, 2015, v. 36, n. 5, p. 548, doi. 10.1002/humu.22776
By:
- Nurden, Alan T.;
- Pillois, Xavier;
- Fiore, Mathieu;
- Alessi, Marie‐Christine;
- Bonduel, Mariana;
- Dreyfus, Marie;
- Goudemand, Jenny;
- Gruel, Yves;
- Benabdallah‐Guerida, Schéhérazade;
- Latger‐Cannard, Véronique;
- Négrier, Claude;
- Nugent, Diane;
- Oiron, Roseline d;
- Rand, Margaret L.;
- Sié, Pierre;
- Trossaert, Marc;
- Alberio, Lorenzo;
- Martins, Nathalie;
- Sirvain‐Trukniewicz, Peggy;
- Couloux, Arnaud
Publication type:
Article
The Importance of Proper Testing of Predictor Performance.
Published in:
2015
By:
- Vihinen, Mauno
Publication type:
Other