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Volume 37; Issue 7
Main
Human Mutation
Volume 37; Issue 7
Human Mutation
Volume 37; Issue 7
1
Functional and Clinical Consequences of Novel α-Galactosidase A Mutations in Fabry Disease
Lukas, Jan
,
Scalia, Simone
,
Eichler, Sabrina
,
Pockrandt, Anne-Marie
,
Dehn, Nicole
,
Cozma, Claudia
,
Giese, Anne-Katrin
,
Rolfs, Arndt
Journal:
Human Mutation
Year:
2016
File:
PDF, 74 KB
Your tags:
2016
2
Mucolipidosis III GNPTG Missense Mutations Cause Misfolding of the γ Subunit of GlcNAc-1-Phosphotransferase
van Meel, Eline
,
Kornfeld, Stuart
Journal:
Human Mutation
Year:
2016
Language:
english
File:
PDF, 630 KB
Your tags:
english, 2016
3
Complex Copy Number Variation of AMY1 does not Associate with Obesity in two East Asian Cohorts
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.
Journal:
Human Mutation
Year:
2016
Language:
english
File:
PDF, 779 KB
Your tags:
english, 2016
4
Strømme Syndrome Is a Ciliary Disorder Caused by Mutations in CENPF
Filges, Isabel
,
Bruder, Elisabeth
,
Brandal, Kristin
,
Meier, Stephanie
,
Undlien, Dag Erik
,
Waage, Trine Rygvold
,
Hoesli, Irene
,
Schubach, Max
,
de Beer, Tjaart
,
Sheng, Ying
,
Hoeller, Sylvia
,
Schulzke, S
Journal:
Human Mutation
Year:
2016
Language:
english
File:
PDF, 80 KB
Your tags:
english, 2016
5
ALG1-CDG: Clinical and Molecular Characterization of 39 Unreported Patients
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
Journal:
Human Mutation
Year:
2016
Language:
english
File:
PDF, 745 KB
Your tags:
english, 2016
6
Understanding N-Acetyl-L-Glutamate Synthase Deficiency: Mutational Spectrum, Impact of Clinical Mutations on Enzyme Functionality, and Structural Considerations
Sancho-Vaello, Enea
,
Marco-Marín, Clara
,
Gougeard, Nadine
,
Fernández-Murga, Leonor
,
Rüfenacht, Véronique
,
Mustedanagic, Merima
,
Rubio, Vicente
,
Häberle, Johannes
Journal:
Human Mutation
Year:
2016
Language:
english
File:
PDF, 2.58 MB
Your tags:
english, 2016
7
Prioritizing Variants in Complete Hereditary Breast and Ovarian Cancer Genes in Patients Lacking Known BRCA Mutations
Caminsky, Natasha G.
,
Mucaki, Eliseos J.
,
Perri, Ami M.
,
Lu, Ruipeng
,
Knoll, Joan H. M.
,
Rogan, Peter K.
Journal:
Human Mutation
Year:
2016
Language:
english
File:
PDF, 676 KB
Your tags:
english, 2016
8
Adding In Silico Assessment of Potential Splice Aberration to the Integrated Evaluation of BRCA Gene Unclassified Variants
Vallée, Maxime P.
,
Di 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,
Journal:
Human Mutation
Year:
2016
Language:
english
File:
PDF, 613 KB
Your tags:
english, 2016
9
Fryns Syndrome Associated with Recessive Mutations in PIGN in two Separate Families
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, La
Journal:
Human Mutation
Year:
2016
Language:
english
File:
PDF, 513 KB
Your tags:
english, 2016
10
A Distinct Class of Chromoanagenesis Events Characterized by Focal Copy Number Gains
Masset, Heleen
,
Hestand, Matthew S.
,
Van Esch, Hilde
,
Kleinfinger, Pascale
,
Plaisancié, Julie
,
Afenjar, Alexandra
,
Molignier, Romain
,
Schluth-Bolard, Caroline
,
Sanlaville, Damien
,
Vermeesch, Joris R.
Journal:
Human Mutation
Year:
2016
Language:
english
File:
PDF, 1.34 MB
Your tags:
english, 2016
11
High Frequency of Pathogenic Rearrangements in SPG11 and Extensive Contribution of Mutational Hotspots and Founder Alleles
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
,
Journal:
Human Mutation
Year:
2016
Language:
english
File:
PDF, 999 KB
Your tags:
english, 2016
12
Issue Information
Journal:
Human Mutation
Year:
2016
Language:
english
File:
PDF, 312 KB
Your tags:
english, 2016
13
Recessive PIGN Mutations in Fryns Syndrome: Evidence for Genetic Heterogeneity
Thompson, Miles D.
,
Cole, David E.
Journal:
Human Mutation
Year:
2016
Language:
english
File:
PDF, 72 KB
Your tags:
english, 2016
14
Cover Image, Volume 37, Issue 7
Journal:
Human Mutation
Year:
2016
File:
PDF, 432 KB
Your tags:
2016
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