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Volume 37; Issue 2
Main
Human Mutation
Volume 37; Issue 2
Human Mutation
Volume 37; Issue 2
1
Cover Image, Volume 37, Issue 2
Journal:
Human Mutation
Year:
2016
File:
PDF, 408 KB
Your tags:
2016
2
SMPD1 Mutation Update: Database and Comprehensive Analysis of Published and Novel Variants
Zampieri, Stefania
,
Filocamo, Mirella
,
Pianta, Annalisa
,
Lualdi, Susanna
,
Gort, Laura
,
Coll, Maria Jose
,
Sinnott, Richard
,
Geberhiwot, Tarekegn
,
Bembi, Bruno
,
Dardis, Andrea
Journal:
Human Mutation
Year:
2016
Language:
english
File:
PDF, 516 KB
Your tags:
english, 2016
3
Clinical Sensitivity of Cystic Fibrosis Mutation Panels in a Diverse Population
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
,
A
Journal:
Human Mutation
Year:
2016
Language:
english
File:
PDF, 184 KB
Your tags:
english, 2016
4
Mechanisms for the Generation of Two Quadruplications Associated with Split-Hand Malformation
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.
Journal:
Human Mutation
Year:
2016
Language:
english
File:
PDF, 576 KB
Your tags:
english, 2016
5
Whole USH2A Gene Sequencing Identifies Several New Deep Intronic Mutations
Liquori, Alessandro
,
Vaché, Christel
,
Baux, David
,
Blanchet, Catherine
,
Hamel, Christian
,
Malcolm, Sue
,
Koenig, Michel
,
Claustres, Mireille
,
Roux, Anne-Françoise
Journal:
Human Mutation
Year:
2016
Language:
english
File:
PDF, 1.23 MB
Your tags:
english, 2016
6
Issue Information
Journal:
Human Mutation
Year:
2016
File:
PDF, 266 KB
Your tags:
2016
7
TMEM107 Is a Critical Regulator of Ciliary Protein Composition and Is Mutated in Orofaciodigital Syndrome
Shylo, Natalia A.
,
Christopher, Kasey J.
,
Iglesias, Alejandro
,
Daluiski, Aaron
,
Weatherbee, Scott D.
Journal:
Human Mutation
Year:
2016
Language:
english
File:
PDF, 503 KB
Your tags:
english, 2016
8
A Newly Identified Missense Mutation in FARS2 Causes Autosomal-Recessive Spastic Paraplegia
Yang, Ying
,
Liu, Wei
,
Fang, Zhipeng
,
Shi, Juan
,
Che, Fengyu
,
He, Chunxia
,
Yao, Libo
,
Wang, Enduo
,
Wu, Yuanming
Journal:
Human Mutation
Year:
2016
Language:
english
File:
PDF, 599 KB
Your tags:
english, 2016
9
Correction of a Cystic Fibrosis Splicing Mutation by Antisense Oligonucleotides
Igreja, Susana
,
Clarke, Luka A.
,
Botelho, Hugo M.
,
Marques, Luís
,
Amaral, Margarida D.
Journal:
Human Mutation
Year:
2016
Language:
english
File:
PDF, 696 KB
Your tags:
english, 2016
10
PEX6 is Expressed in Photoreceptor Cilia and Mutated in Deafblindness with Enamel Dysplasia and Microcephaly
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.
,
Journal:
Human Mutation
Year:
2016
Language:
english
File:
PDF, 634 KB
Your tags:
english, 2016
11
Mandibulofacial Dysostosis with Microcephaly: Mutation and Database Update
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,
Journal:
Human Mutation
Year:
2016
Language:
english
File:
PDF, 919 KB
Your tags:
english, 2016
12
A Zebrafish Loss-of-Function Model for Human CFAP53 Mutations Reveals Its Specific Role in Laterality Organ Function
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.
,
Journal:
Human Mutation
Year:
2016
Language:
english
File:
PDF, 559 KB
Your tags:
english, 2016
13
From Whole Gene Deletion to Point Mutations of EP300 -Positive Rubinstein-Taybi Patients: New Insights into the Mutational Spectrum and Peculiar Clinical Hallmarks
Negri, Gloria
,
Magini, Pamela
,
Milani, Donatella
,
Colapietro, Patrizia
,
Rusconi, Daniela
,
Scarano, Emanuela
,
Bonati, Maria Teresa
,
Priolo, Manuela
,
Crippa, Milena
,
Mazzanti, Laura
,
Wischmeijer, Anita
,
Journal:
Human Mutation
Year:
2016
Language:
english
File:
PDF, 515 KB
Your tags:
english, 2016
14
HMOX2 Functions as a Modifier Gene for High-Altitude Adaptation in Tibetans
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,
,
Journal:
Human Mutation
Year:
2016
Language:
english
File:
PDF, 999 KB
Your tags:
english, 2016
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