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Date 2014 Journal Human mutation

1. A CGG‐Repeat Expansion Mutation in ZNF713 Causes FRA7A: Association with Autistic Spectrum Disorder in Two Families. Issue 11 (November 2014)

Authors:
Metsu, Sofie; Rainger, Jacqueline K.; Debacker, Kim; Bernhard, Birgitta; Rooms, Liesbeth; Grafodatskaya, Daria; Weksberg, Rosanna; Fombonne, Eric; Taylor, Martin S.; Scherer, Stephen W.; Kooy, R. Frank; FitzPatrick, David R.
Journal:
Human mutation
Issue:
Volume 35:Issue 11(2014:Nov.)
Page Start:
1295
Record Type:
Journal Article
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3. A Dominant STIM1 Mutation Causes Stormorken Syndrome. Issue 5 (9th April 2014)

Authors:
Misceo, Doriana; Holmgren, Asbjørn; Louch, William E.; Holme, Pål A.; Mizobuchi, Masahiro; Morales, Raul J.; De Paula, André Maues; Stray‐Pedersen, Asbjørg; Lyle, Robert; Dalhus, Bjørn; Christensen, Geir; Stormorken, Helge; Tjønnfjord, Geir E.; Frengen, Eirik
Journal:
Human mutation
Issue:
Volume 35:Issue 5(2014:May)
Page Start:
556
Record Type:
Journal Article
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6. A Genetic Variant in the Seed Region of miR‐4513 Shows Pleiotropic Effects on Lipid and Glucose Homeostasis, Blood Pressure, and Coronary Artery Disease. Issue 12 (December 2014)

Authors:
Ghanbari, Mohsen; de Vries, Paul S.; de Looper, Hans; Peters, Marjolein J.; Schurmann, Claudia; Yaghootkar, Hanieh; Dörr, Marcus; Frayling, Timothy M.; Uitterlinden, Andre G.; Hofman, Albert; van Meurs, Joyce B. J.; Erkeland, Stefan J.; Franco, Oscar H.; Dehghan, Abbas
Journal:
Human mutation
Issue:
Volume 35:Issue 12(2014:Dec.)
Page Start:
1524
Record Type:
Journal Article
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7. A Mutation in the CASQ1 Gene Causes a Vacuolar Myopathy with Accumulation of Sarcoplasmic Reticulum Protein Aggregates. Issue 10 (10th September 2014)

Authors:
Rossi, Daniela; Vezzani, Bianca; Galli, Lucia; Paolini, Cecilia; Toniolo, Luana; Pierantozzi, Enrico; Spinozzi, Simone; Barone, Virginia; Pegoraro, Elena; Bello, Luca; Cenacchi, Giovanna; Vattemi, Gaetano; Tomelleri, Giuliano; Ricci, Giulia; Siciliano, Gabriele; Protasi, Feliciano; Reggiani, Carl...
Journal:
Human mutation
Issue:
Volume 35:Issue 10(2014:Oct.)
Page Start:
1163
Record Type:
Journal Article
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9. A New Overgrowth Syndrome is due to Mutations in RNF125. Issue 12 (December 2014)

Authors:
Tenorio, Jair; Mansilla, Alicia; Valencia, María; Martínez‐Glez, Víctor; Romanelli, Valeria; Arias, Pedro; Castrejón, Nerea; Poletta, Fernando; Guillén‐Navarro, Encarna; Gordo, Gema; Mansilla, Elena; García‐Santiago, Fé; González‐Casado, Isabel; Vallespín, Elena; Palomares, María; Mori, María A.;...
Journal:
Human mutation
Issue:
Volume 35:Issue 12(2014:Dec.)
Page Start:
1436
Record Type:
Journal Article
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10. A New Workflow for Whole‐Genome Sequencing of Single Human Cells. Issue 10 (18th August 2014)

Authors:
Binder, Vera; Bartenhagen, Christoph; Okpanyi, Vera; Gombert, Michael; Moehlendick, Birte; Behrens, Bianca; Klein, Hans‐Ulrich; Rieder, Harald; Ida Krell, Pina Fanny; Dugas, Martin; Stoecklein, Nikolas Hendrik; Borkhardt, Arndt
Journal:
Human mutation
Issue:
Volume 35:Issue 10(2014:Oct.)
Page Start:
1260
Record Type:
Journal Article
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