Works matching IS 10597794 AND DT 2016 AND VI 37 AND IP 7

Results: 14

Adding In Silico Assessment of Potential Splice Aberration to the Integrated Evaluation of BRCA Gene Unclassified Variants.
Published in:
Human Mutation, 2016, v. 37, n. 7, p. 627, doi. 10.1002/humu.22973
By:
- Vallée, Maxime P.;
- Sera, Tonya L.;
- Nix, David A.;
- Paquette, Andrew M.;
- Parsons, Michael T.;
- Bell, Russel;
- Hoffman, Andrea;
- Hogervorst, Frans B. L.;
- Goldgar, David E.;
- Spurdle, Amanda B.;
- Tavtigian, Sean V.
Publication type:
Article
Prioritizing Variants in Complete Hereditary Breast and Ovarian Cancer Genes in Patients Lacking Known BRCA Mutations.
Published in:
Human Mutation, 2016, v. 37, n. 7, p. 640, doi. 10.1002/humu.22972
By:
- Caminsky, Natasha G.;
- Mucaki, Eliseos J.;
- Perri, Ami M.;
- Lu, Ruipeng;
- Knoll, Joan H. M.;
- Rogan, Peter K.
Publication type:
Article
High Frequency of Pathogenic Rearrangements in SPG11 and Extensive Contribution of Mutational Hotspots and Founder Alleles.
Published in:
Human Mutation, 2016, v. 37, n. 7, p. 703, doi. 10.1002/humu.23000
By:
- Günther, Sven;
- Elert‐Dobkowska, Ewelina;
- Soehn, Anne S.;
- Hinreiner, Sophie;
- Yoon, Grace;
- Heller, Raoul;
- Hellenbroich, Yorck;
- Hübner, Christian A.;
- Ray, Peter N.;
- Hehr, Ute;
- Bauer, Peter;
- Sulek, Anna;
- Beetz, Christian
Publication type:
Article
Functional and Clinical Consequences of Novel α-Galactosidase A Mutations in Fabry Disease.
Published in:
Human Mutation, 2016, v. 37, n. 7, p. 710, doi. 10.1002/humu.22991
By:
- Lukas, Jan;
- Scalia, Simone;
- Eichler, Sabrina;
- Pockrandt, Anne‐Marie;
- Dehn, Nicole;
- Cozma, Claudia;
- Giese, Anne‐Katrin;
- Rolfs, Arndt
Publication type:
Article
Mucolipidosis III GNPTG Missense Mutations Cause Misfolding of the γ Subunit of GlcNAc-1-Phosphotransferase.
Published in:
Human Mutation, 2016, v. 37, n. 7, p. 623, doi. 10.1002/humu.22993
By:
- Meel, Eline;
- Kornfeld, Stuart
Publication type:
Article
Fryns Syndrome Associated with Recessive Mutations in PIGN in two Separate Families.
Published in:
Human Mutation, 2016, v. 37, n. 7, p. 695, doi. 10.1002/humu.22994
By:
- McInerney‐Leo, Aideen M.;
- Harris, Jessica E.;
- Gattas, Michael;
- Peach, Elizabeth E.;
- Sinnott, Stephen;
- Dudding‐Byth, Tracy;
- Rajagopalan, Sulekha;
- Barnett, Christopher P.;
- Anderson, Lisa K.;
- Wheeler, Lawrie;
- Brown, Matthew A.;
- Leo, Paul J.;
- Wicking, Carol;
- Duncan, Emma L.
Publication type:
Article
Understanding N-Acetyl-L-Glutamate Synthase Deficiency: Mutational Spectrum, Impact of Clinical Mutations on Enzyme Functionality, and Structural Considerations.
Published in:
Human Mutation, 2016, v. 37, n. 7, p. 679, doi. 10.1002/humu.22995
By:
- Sancho‐Vaello, Enea;
- Marco‐Marín, Clara;
- Gougeard, Nadine;
- Fernández‐Murga, Leonor;
- Rüfenacht, Véronique;
- Mustedanagic, Merima;
- Rubio, Vicente;
- Häberle, Johannes
Publication type:
Article
Complex Copy Number Variation of AMY1 does not Associate with Obesity in two East Asian Cohorts.
Published in:
Human Mutation, 2016, v. 37, n. 7, p. 669, doi. 10.1002/humu.22996
By:
- Yong, Rita Y.Y.;
- Mustaffa, Su'Aidah B.;
- Wasan, Pavandip S.;
- Sheng, Liang;
- Marshall, Christian R.;
- Scherer, Stephen W.;
- Teo, Yik‐Ying;
- Yap, Eric P.H.
Publication type:
Article
Strømme Syndrome Is a Ciliary Disorder Caused by Mutations in CENPF.
Published in:
Human Mutation, 2016, v. 37, n. 7, p. 711, doi. 10.1002/humu.22997
By:
- Filges, Isabel;
- Bruder, Elisabeth;
- Brandal, Kristin;
- Meier, Stephanie;
- Undlien, Dag Erik;
- Waage, Trine Rygvold;
- Hoesli, Irene;
- Schubach, Max;
- Beer, Tjaart;
- Sheng, Ying;
- Hoeller, Sylvia;
- Schulzke, Sven;
- Røsby, Oddveig;
- Miny, Peter;
- Tercanli, Sevgi;
- Oppedal, Truls;
- Meyer, Peter;
- Selmer, Kaja Kristine;
- Strømme, Petter
Publication type:
Article
Cover Image, Volume 37, Issue 7.
Published in:
Human Mutation, 2016, v. 37, n. 7, p. NA, doi. 10.1002/humu.23020
Publication type:
Article
ALG1-CDG: Clinical and Molecular Characterization of 39 Unreported Patients.
Published in:
Human Mutation, 2016, v. 37, n. 7, p. 653, doi. 10.1002/humu.22983
By:
- Ng, Bobby G.;
- Shiryaev, Sergey A.;
- Rymen, Daisy;
- Eklund, Erik A.;
- Raymond, Kimiyo;
- Kircher, Martin;
- Abdenur, Jose E.;
- Alehan, Fusun;
- Midro, Alina T.;
- Bamshad, Michael J.;
- Barone, Rita;
- Berry, Gerard T.;
- Brumbaugh, Jane E.;
- Buckingham, Kati J.;
- Clarkson, Katie;
- Cole, F. Sessions;
- O'Connor, Shawn;
- Cooper, Gregory M.;
- Coster, Rudy;
- Demmer, Laurie A.
Publication type:
Article
A Distinct Class of Chromoanagenesis Events Characterized by Focal Copy Number Gains.
Published in:
Human Mutation, 2016, v. 37, n. 7, p. 661, doi. 10.1002/humu.22984
By:
- Masset, Heleen;
- Hestand, Matthew S.;
- Esch, Hilde;
- Kleinfinger, Pascale;
- Plaisancié, Julie;
- Afenjar, Alexandra;
- Molignier, Romain;
- Schluth‐Bolard, Caroline;
- Sanlaville, Damien;
- Vermeesch, Joris R.
Publication type:
Article
Recessive PIGN Mutations in Fryns Syndrome: Evidence for Genetic Heterogeneity.
Published in:
2016
By:
- Thompson, Miles D.;
- Cole, David E.
Publication type:
Other
Issue Information.
Published in:
Human Mutation, 2016, v. 37, n. 7, p. 617, doi. 10.1002/humu.22881
Publication type:
Article