Works matching IS 10597794 AND DT 2013 AND VI 34 AND IP 10

Results: 20
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    Characterization of SLC26 A9 in Patients with CF-Like Lung Disease.

    Published in:
    Human Mutation, 2013, v. 34, n. 10, p. 1404, doi. 10.1002/humu.22382
    By:
    • Bakouh, Naziha;
    • Bienvenu, Thierry;
    • Thomas, Annick;
    • Ehrenfeld, Jordi;
    • Liote, Huguette;
    • Roussel, Delphine;
    • Duquesnoy, Philippe;
    • Farman, Nicolette;
    • Viel, Marion;
    • Cherif‐Zahar, Baya;
    • Amselem, Serge;
    • Taam, Rola Abou;
    • Edelman, Aleksander;
    • Planelles, Gabrielle;
    • Sermet‐Gaudelus, Isabelle
    Publication type:
    Article
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    Best Practice Guidelines for the Use of Next-Generation Sequencing Applications in Genome Diagnostics: A National Collaborative Study of Dutch Genome Diagnostic Laboratories.

    Published in:
    Human Mutation, 2013, v. 34, n. 10, p. 1313, doi. 10.1002/humu.22368
    By:
    • Weiss, Marjan M.;
    • Zwaag, Bert;
    • Jongbloed, Jan D. H.;
    • Vogel, Maartje J.;
    • Brüggenwirth, Hennie T.;
    • Lekanne Deprez, Ronald H.;
    • Mook, Olaf;
    • Ruivenkamp, Claudia A. L.;
    • Slegtenhorst, Marjon A.;
    • Wijngaard, Arthur;
    • Waisfisz, Quinten;
    • Nelen, Marcel R.;
    • Stoep, Nienke
    Publication type:
    Article
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    Clinical and Radiographic Features of the Autosomal Recessive form of Brachyolmia Caused by PAPSS2 Mutations.

    Published in:
    Human Mutation, 2013, v. 34, n. 10, p. 1381, doi. 10.1002/humu.22377
    By:
    • Iida, Aritoshi;
    • Simsek‐Kiper, Pelin Özlem;
    • Mizumoto, Shuji;
    • Hoshino, Touma;
    • Elcioglu, Nursel;
    • Horemuzova, Eva;
    • Geiberger, Stefan;
    • Yesil, Gozde;
    • Kayserili, Hülya;
    • Utine, Gülen Eda;
    • Boduroglu, Koray;
    • Watanabe, Shigehiko;
    • Ohashi, Hirofumi;
    • Alanay, Yasemin;
    • Sugahara, Kazuyuki;
    • Nishimura, Gen;
    • Ikegawa, Shiro
    Publication type:
    Article
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    CPAP: Cancer Panel Analysis Pipeline.

    Published in:
    Human Mutation, 2013, v. 34, n. 10, p. 1340, doi. 10.1002/humu.22386
    By:
    • Huang, Po‐Jung;
    • Yeh, Yuan‐Ming;
    • Gan, Ruei‐Chi;
    • Lee, Chi‐Ching;
    • Chen, Ting‐Wen;
    • Lee, Cheng‐Yang;
    • Liu, Hsuan;
    • Chen, Shu‐Jen;
    • Tang, Petrus
    Publication type:
    Article
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    HOXA 2 Haploinsufficiency in Dominant Bilateral Microtia and Hearing Loss.

    Published in:
    Human Mutation, 2013, v. 34, n. 10, p. 1347, doi. 10.1002/humu.22367
    By:
    • Brown, Kerry K.;
    • Viana, Lucas M.;
    • Helwig, Cecilia C.;
    • Artunduaga, Maria A.;
    • Quintanilla‐Dieck, Lourdes;
    • Jarrin, Patricia;
    • Osorno, Gabriel;
    • McDonough, Barbara;
    • DePalma, Steven R.;
    • Eavey, Roland D.;
    • Seidman, Jonathan G.;
    • Seidman, Christine E.
    Publication type:
    Article
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    IL-12 Rβ1 Deficiency: Mutation Update and Description of the IL12 RB1 Variation Database.

    Published in:
    Human Mutation, 2013, v. 34, n. 10, p. 1329, doi. 10.1002/humu.22380
    By:
    • Vosse, Esther;
    • Haverkamp, Margje H.;
    • Ramirez‐Alejo, Noe;
    • Martinez‐Gallo, Mónica;
    • Blancas‐Galicia, Lizbeth;
    • Metin, Ayşe;
    • Garty, Ben Zion;
    • Sun‐Tan, Çağman;
    • Broides, Arnon;
    • Paus, Roelof A.;
    • Keskin, Özlem;
    • Çağdaş, Deniz;
    • Tezcan, Ilhan;
    • Lopez‐Ruzafa, Encarna;
    • Aróstegui, Juan I.;
    • Levy, Jacov;
    • Espinosa‐Rosales, Francisco J.;
    • Sanal, Özden;
    • Santos‐Argumedo, Leopoldo;
    • Casanova, Jean‐Laurent
    Publication type:
    Article
    17

    Recurrent HERV- H-Mediated 3q13.2-q13.31 Deletions Cause a Syndrome of Hypotonia and Motor, Language, and Cognitive Delays.

    Published in:
    Human Mutation, 2013, v. 34, n. 10, p. 1415, doi. 10.1002/humu.22384
    By:
    • Shuvarikov, Andrey;
    • Campbell, Ian M.;
    • Dittwald, Piotr;
    • Neill, Nicholas J.;
    • Bialer, Martin G.;
    • Moore, Christine;
    • Wheeler, Patricia G.;
    • Wallace, Stephanie E.;
    • Hannibal, Mark C.;
    • Murray, Michael F.;
    • Giovanni, Monica A.;
    • Terespolsky, Deborah;
    • Sodhi, Sandi;
    • Cassina, Matteo;
    • Viskochil, David;
    • Moghaddam, Billur;
    • Herman, Kristin;
    • Brown, Chester W.;
    • Beck, Christine R.;
    • Gambin, Anna
    Publication type:
    Article
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    Evaluation of a 5-Tier Scheme Proposed for Classification of Sequence Variants Using Bioinformatic and Splicing Assay Data: Inter-Reviewer Variability and Promotion of Minimum Reporting Guidelines.

    Published in:
    Human Mutation, 2013, v. 34, n. 10, p. 1424, doi. 10.1002/humu.22388
    By:
    • Walker, Logan C.;
    • Whiley, Phillip J.;
    • Houdayer, Claude;
    • Hansen, Thomas V. O.;
    • Vega, Ana;
    • Santamarina, Marta;
    • Blanco, Ana;
    • Fachal, Laura;
    • Southey, Melissa C.;
    • Lafferty, Alan;
    • Colombo, Mara;
    • De Vecchi, Giovanna;
    • Radice, Paolo;
    • Spurdle, Amanda B.
    Publication type:
    Article
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    Hereditary Spastic Paraplegia Type 43 ( SPG43) is Caused by Mutation in C19orf12.

    Published in:
    Human Mutation, 2013, v. 34, n. 10, p. 1357, doi. 10.1002/humu.22378
    By:
    • Landouré, Guida;
    • Zhu, Peng‐Peng;
    • Lourenço, Charles M.;
    • Johnson, Janel O.;
    • Toro, Camilo;
    • Bricceno, Katherine V.;
    • Rinaldi, Carlo;
    • Meilleur, Katherine G.;
    • Sangaré, Modibo;
    • Diallo, Oumarou;
    • Pierson, Tyler M.;
    • Ishiura, Hiroyuki;
    • Tsuji, Shoji;
    • Hein, Nichole;
    • Fink, John K.;
    • Stoll, Marion;
    • Nicholson, Garth;
    • Gonzalez, Michael A.;
    • Speziani, Fiorella;
    • Dürr, Alexandra
    Publication type:
    Article