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Volume 54; Issue 2
Main
Journal of Medical Genetics
Volume 54; Issue 2
Journal of Medical Genetics
Volume 54; Issue 2
1
Genetics of idiopathic pulmonary fibrosis: from mechanistic pathways to personalised medicine
Spagnolo, Paolo
,
Cottin, Vincent
Journal:
Journal of Medical Genetics
Year:
2017
Language:
english
File:
PDF, 1.20 MB
Your tags:
english, 2017
2
The cerebellum and embodied semantics: evidence from a case of genetic ataxia due to STUB1 mutations
García, Adolfo M
,
Abrevaya, Sofía
,
Kozono, Giselle
,
Cordero, Indira García
,
Córdoba, Marta
,
Kauffman, Marcelo Andrés
,
Pautassi, Ricardo
,
Muñoz, Edinson
,
Sedeño, Lucas
,
Ibáñez, Agustín
Journal:
Journal of Medical Genetics
Year:
2017
Language:
english
File:
PDF, 351 KB
Your tags:
english, 2017
3
De novo missense variants in HECW2 are associated with neurodevelopmental delay and hypotonia
Berko, Esther R
,
Cho, Megan T
,
Eng, Christine
,
Shao, Yunru
,
Sweetser, David A
,
Waxler, Jessica
,
Robin, Nathaniel H
,
Brewer, Fallon
,
Donkervoort, Sandra
,
Mohassel, Payam
,
Bönnemann, Carsten G
,
Bialer,
Journal:
Journal of Medical Genetics
Year:
2017
Language:
english
File:
PDF, 987 KB
Your tags:
english, 2017
4
Targeted massively parallel sequencing and histological assessment of skeletal muscles for the molecular diagnosis of inherited muscle disorders
Nishikawa, Atsuko
,
Mitsuhashi, Satomi
,
Miyata, Naomasa
,
Nishino, Ichizo
Journal:
Journal of Medical Genetics
Year:
2017
Language:
english
File:
PDF, 689 KB
Your tags:
english, 2017
5
The impact of a panel of 18 SNPs on breast cancer risk in women attending a UK familial screening clinic: a case–control study
Evans, D Gareth
,
Brentnall, Adam
,
Byers, Helen
,
Harkness, Elaine
,
Stavrinos, Paula
,
Howell, Anthony
,
Newman, William G
,
Cuzick, Jack
Journal:
Journal of Medical Genetics
Year:
2017
Language:
english
File:
PDF, 329 KB
Your tags:
english, 2017
6
High diagnostic yield of syndromic intellectual disability by targeted next-generation sequencing
Martínez, Francisco
,
Caro-Llopis, Alfonso
,
Roselló, Mónica
,
Oltra, Silvestre
,
Mayo, Sonia
,
Monfort, Sandra
,
Orellana, Carmen
Journal:
Journal of Medical Genetics
Year:
2017
Language:
english
File:
PDF, 235 KB
Your tags:
english, 2017
7
Homozygous and compound heterozygous mutations in the FBN1 gene: unexpected findings in molecular diagnosis of Marfan syndrome
Arnaud, Pauline
,
Hanna, Nadine
,
Aubart, Mélodie
,
Leheup, Bruno
,
Dupuis-Girod, Sophie
,
Naudion, Sophie
,
Lacombe, Didier
,
Milleron, Olivier
,
Odent, Sylvie
,
Faivre, Laurence
,
Bal, Laurence
,
Edouard, Thom
Journal:
Journal of Medical Genetics
Year:
2017
Language:
english
File:
PDF, 744 KB
Your tags:
english, 2017
8
The performance of deleteriousness prediction scores for rare non-protein-changing single nucleotide variants in human genes
Liu, Xiaoming
,
Li, Chang
,
Boerwinkle, Eric
Journal:
Journal of Medical Genetics
Year:
2017
Language:
english
File:
PDF, 630 KB
Your tags:
english, 2017
9
De novo mtDNA point mutations are common and have a low recurrence risk
Sallevelt, Suzanne C E H
,
de Die-Smulders, Christine E M
,
Hendrickx, Alexandra T M
,
Hellebrekers, Debby M E I
,
de Coo, Irenaeus F M
,
Alston, Charlotte L
,
Knowles, Charlotte
,
Taylor, Robert W
,
McFarlan
Journal:
Journal of Medical Genetics
Year:
2017
Language:
english
File:
PDF, 623 KB
Your tags:
english, 2017
10
Risk assessment of maternally inherited SDHD paraganglioma and phaeochromocytoma
Burnichon, Nelly
,
Mazzella, Jean-Michaël
,
Drui, Delphine
,
Amar, Laurence
,
Bertherat, Jérôme
,
Coupier, Isabelle
,
Delemer, Brigitte
,
Guilhem, Isabelle
,
Herman, Philippe
,
Kerlan, Véronique
,
Tabarin, Anto
Journal:
Journal of Medical Genetics
Year:
2017
Language:
english
File:
PDF, 1.64 MB
Your tags:
english, 2017
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