Works matching IS 10597794 AND DT 2016 AND VI 37 AND IP 2

Results: 14

Issue Information.
Published in:
2016
Publication type:
Other
A Newly Identified Missense Mutation in FARS2 Causes Autosomal-Recessive Spastic Paraplegia.
Published in:
Human Mutation, 2016, v. 37, n. 2, p. 165, doi. 10.1002/humu.22930
By:
- Yang, Ying;
- Liu, Wei;
- Fang, Zhipeng;
- Shi, Juan;
- Che, Fengyu;
- He, Chunxia;
- Yao, Libo;
- Wang, Enduo;
- Wu, Yuanming
Publication type:
Article
Correction of a Cystic Fibrosis Splicing Mutation by Antisense Oligonucleotides.
Published in:
Human Mutation, 2016, v. 37, n. 2, p. 209, doi. 10.1002/humu.22931
By:
- Igreja, Susana;
- Clarke, Luka A.;
- Botelho, Hugo M.;
- Marques, Luís;
- Amaral, Margarida D.
Publication type:
Article
PEX6 is Expressed in Photoreceptor Cilia and Mutated in Deafblindness with Enamel Dysplasia and Microcephaly.
Published in:
Human Mutation, 2016, v. 37, n. 2, p. 170, doi. 10.1002/humu.22934
By:
- Zaki, Maha S.;
- Heller, Raoul;
- Thoenes, Michaela;
- Nürnberg, Gudrun;
- Stern‐Schneider, Gabi;
- Nürnberg, Peter;
- Karnati, Srikanth;
- Swan, Daniel;
- Fateen, Ekram;
- Nagel‐Wolfrum, Kerstin;
- Mostafa, Mostafa I.;
- Thiele, Holger;
- Wolfrum, Uwe;
- Baumgart‐Vogt, Eveline;
- Bolz, Hanno J.
Publication type:
Article
HMOX2 Functions as a Modifier Gene for High-Altitude Adaptation in Tibetans.
Published in:
Human Mutation, 2016, v. 37, n. 2, p. 216, doi. 10.1002/humu.22935
By:
- Yang, Deying;
- Peng, Yi;
- Ouzhuluobu;
- Bianbazhuoma;
- Cui, Chaoying;
- Bianba;
- Wang, Liangbang;
- Xiang, Kun;
- He, Yaoxi;
- Zhang, Hui;
- Zhang, Xiaoming;
- Liu, Jiewei;
- Shi, Hong;
- Pan, Yongyue;
- Duojizhuoma;
- Dejiquzong;
- Cirenyangji;
- Baimakangzhuo;
- Gonggalanzi;
- Liu, Shimin
Publication type:
Article
Cover Image, Volume 37, Issue 2.
Published in:
2016
Publication type:
Other
From Whole Gene Deletion to Point Mutations of EP300-Positive Rubinstein-Taybi Patients: New Insights into the Mutational Spectrum and Peculiar Clinical Hallmarks.
Published in:
Human Mutation, 2016, v. 37, n. 2, p. 175, doi. 10.1002/humu.22922
By:
- Negri, Gloria;
- Magini, Pamela;
- Milani, Donatella;
- Colapietro, Patrizia;
- Rusconi, Daniela;
- Scarano, Emanuela;
- Bonati, Maria Teresa;
- Priolo, Manuela;
- Crippa, Milena;
- Mazzanti, Laura;
- Wischmeijer, Anita;
- Tamburrino, Federica;
- Pippucci, Tommaso;
- Finelli, Palma;
- Larizza, Lidia;
- Gervasini, Cristina
Publication type:
Article
SMPD1 Mutation Update: Database and Comprehensive Analysis of Published and Novel Variants.
Published in:
Human Mutation, 2016, v. 37, n. 2, p. 139, doi. 10.1002/humu.22923
By:
- Zampieri, Stefania;
- Filocamo, Mirella;
- Pianta, Annalisa;
- Lualdi, Susanna;
- Gort, Laura;
- Coll, Maria Jose;
- Sinnott, Richard;
- Geberhiwot, Tarekegn;
- Bembi, Bruno;
- Dardis, Andrea
Publication type:
Article
Mandibulofacial Dysostosis with Microcephaly: Mutation and Database Update.
Published in:
Human Mutation, 2016, v. 37, n. 2, p. 148, doi. 10.1002/humu.22924
By:
- Huang, Lijia;
- Vanstone, Megan R.;
- Hartley, Taila;
- Osmond, Matthew;
- Barrowman, Nick;
- Allanson, Judith;
- Baker, Laura;
- Dabir, Tabib A.;
- Dipple, Katrina M.;
- Dobyns, William B.;
- Estrella, Jane;
- Faghfoury, Hanna;
- Favaro, Francine P.;
- Goel, Himanshu;
- Gregersen, Pernille A.;
- Gripp, Karen W.;
- Grix, Art;
- Guion‐Almeida, Maria‐Leine;
- Harr, Margaret H.;
- Hudson, Cindy
Publication type:
Article
TMEM107 Is a Critical Regulator of Ciliary Protein Composition and Is Mutated in Orofaciodigital Syndrome.
Published in:
Human Mutation, 2016, v. 37, n. 2, p. 155, doi. 10.1002/humu.22925
By:
- Shylo, Natalia A.;
- Christopher, Kasey J.;
- Iglesias, Alejandro;
- Daluiski, Aaron;
- Weatherbee, Scott D.
Publication type:
Article
Whole USH2A Gene Sequencing Identifies Several New Deep Intronic Mutations.
Published in:
Human Mutation, 2016, v. 37, n. 2, p. 184, doi. 10.1002/humu.22926
By:
- Liquori, Alessandro;
- Vaché, Christel;
- Baux, David;
- Blanchet, Catherine;
- Hamel, Christian;
- Malcolm, Sue;
- Koenig, Michel;
- Claustres, Mireille;
- Roux, Anne‐Françoise
Publication type:
Article
Clinical Sensitivity of Cystic Fibrosis Mutation Panels in a Diverse Population.
Published in:
Human Mutation, 2016, v. 37, n. 2, p. 201, doi. 10.1002/humu.22927
By:
- Hughes, Erin E.;
- Stevens, Colleen F.;
- Saavedra‐Matiz, Carlos A.;
- Tavakoli, Norma P.;
- Krein, Lea M.;
- Parker, April;
- Zhang, Zhen;
- Maloney, Breanne;
- Vogel, Beth;
- DeCelie‐Germana, Joan;
- Kier, Catherine;
- Anbar, Ran D.;
- Berdella, Maria N.;
- Comber, Paul G.;
- Dozor, Allen J.;
- Goetz, Danielle M.;
- Guida, Louis;
- Kattan, Meyer;
- Ting, Andrew;
- Voter, Karen Z.
Publication type:
Article
A Zebrafish Loss-of-Function Model for Human CFAP53 Mutations Reveals Its Specific Role in Laterality Organ Function.
Published in:
Human Mutation, 2016, v. 37, n. 2, p. 194, doi. 10.1002/humu.22928
By:
- Noël, Emily S.;
- Momenah, Tarek S.;
- Al‐Dagriri, Khalid;
- Al‐Suwaid, Abdulrahman;
- Al‐Shahrani, Safar;
- Jiang, Hui;
- Willekers, Sven;
- Oostveen, Yara Y.;
- Chocron, Sonja;
- Postma, Alex V.;
- Bhuiyan, Zahurul A.;
- Bakkers, Jeroen
Publication type:
Article
Mechanisms for the Generation of Two Quadruplications Associated with Split-Hand Malformation.
Published in:
Human Mutation, 2016, v. 37, n. 2, p. 160, doi. 10.1002/humu.22929
By:
- Gu, Shen;
- Posey, Jennifer E.;
- Yuan, Bo;
- Carvalho, Claudia M.B.;
- Luk, H.M.;
- Erikson, Kelly;
- Lo, Ivan F.M.;
- Leung, Gordon K.C.;
- Pickering, Curtis R.;
- Chung, Brian H.Y.;
- Lupski, James R.
Publication type:
Article