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Volume 53; Issue 12
Main
Journal of Medical Genetics
Volume 53; Issue 12
Journal of Medical Genetics
Volume 53; Issue 12
1
When chromatin organisation floats astray: the Srcap gene and Floating–Harbor syndrome
Messina, Giovanni
,
Atterrato, Maria Teresa
,
Dimitri, Patrizio
Journal:
Journal of Medical Genetics
Year:
2016
Language:
english
File:
PDF, 1.00 MB
Your tags:
english, 2016
2
Copy-number variations are enriched for neurodevelopmental genes in children with developmental coordination disorder
Mosca, Stephen J
,
Langevin, Lisa Marie
,
Dewey, Deborah
,
Innes, A Micheil
,
Lionel, Anath C
,
Marshall, Christian C
,
Scherer, Stephen W
,
Parboosingh, Jillian S
,
Bernier, Francois P
Journal:
Journal of Medical Genetics
Year:
2016
Language:
english
File:
PDF, 565 KB
Your tags:
english, 2016
3
Cystathionine β-synthase genetic variant rs2124459 is associated with a reduced risk of cleft palate in French and Belgian populations
Goffinet, Laetitia
,
Oussalah, Abderrahim
,
Guéant-Rodriguez, Rosa-Maria
,
Chery, Céline
,
Basha, Mirta
,
Avogbe, Patrice Hodonou
,
Josse, Thomas
,
Jeannesson, Elise
,
Rouyer, Pierre
,
Flayac, Justine
,
Gerard,
Journal:
Journal of Medical Genetics
Year:
2016
Language:
english
File:
PDF, 637 KB
Your tags:
english, 2016
4
Meta-analysis of genome-wide association studies of HDL cholesterol response to statins
Postmus, Iris
,
Warren, Helen R
,
Trompet, Stella
,
Arsenault, Benoit J
,
Avery, Christy L
,
Bis, Joshua C
,
Chasman, Daniel I
,
de Keyser, Catherine E
,
Deshmukh, Harshal A
,
Evans, Daniel S
,
Feng, QiPing
,
Li
Journal:
Journal of Medical Genetics
Year:
2016
Language:
english
File:
PDF, 900 KB
Your tags:
english, 2016
5
Novel asymptomatic CNS findings in patients with ACVR1/ALK2 mutations causing fibrodysplasia ossificans progressiva
Severino, Mariasavina
,
Bertamino, Marta
,
Tortora, Domenico
,
Morana, Giovanni
,
Uccella, Sara
,
Bocciardi, Renata
,
Ravazzolo, Roberto
,
Rossi, Andrea
,
Di Rocco, Maja
Journal:
Journal of Medical Genetics
Year:
2016
Language:
english
File:
PDF, 629 KB
Your tags:
english, 2016
6
Eight further individuals with intellectual disability and epilepsy carrying bi-allelic CNTNAP2 aberrations allow delineation of the mutational and phenotypic spectrum
Smogavec, Mateja
,
Cleall, Alison
,
Hoyer, Juliane
,
Lederer, Damien
,
Nassogne, Marie-Cécile
,
Palmer, Elizabeth E
,
Deprez, Marie
,
Benoit, Valérie
,
Maystadt, Isabelle
,
Noakes, Charlotte
,
Leal, Alejandro
,
Journal:
Journal of Medical Genetics
Year:
2016
Language:
english
File:
PDF, 737 KB
Your tags:
english, 2016
7
COA7 ( C1orf163 /RESA1 ) mutations associated with mitochondrial leukoencephalopathy and cytochrome c oxidase deficiency
Martinez Lyons, Anabel
,
Ardissone, Anna
,
Reyes, Aurelio
,
Robinson, Alan J
,
Moroni, Isabella
,
Ghezzi, Daniele
,
Fernandez-Vizarra, Erika
,
Zeviani, Massimo
Journal:
Journal of Medical Genetics
Year:
2016
Language:
english
File:
PDF, 892 KB
Your tags:
english, 2016
8
Anxiety delivered direct-to-consumer: are we asking the right questions about the impacts of DTC genetic testing?
Oliveri, Serena
,
Howard, Heidi C
,
Renzi, Chiara
,
Hansson, Mats G
,
Pravettoni, Gabriella
Journal:
Journal of Medical Genetics
Year:
2016
Language:
english
File:
PDF, 346 KB
Your tags:
english, 2016
9
PALB2 , CHEK2 and ATM rare variants and cancer risk: data from COGS
Southey, Melissa C
,
Goldgar, David E
,
Winqvist, Robert
,
Pylkäs, Katri
,
Couch, Fergus
,
Tischkowitz, Marc
,
Foulkes, William D
,
Dennis, Joe
,
Michailidou, Kyriaki
,
van Rensburg, Elizabeth J
,
Heikkinen, Tu
Journal:
Journal of Medical Genetics
Year:
2016
Language:
english
File:
PDF, 455 KB
Your tags:
english, 2016
10
Erratum: The kinetochore protein, CENPF , is mutated in human ciliopathy and microcephaly phenotypes
Journal:
Journal of Medical Genetics
Year:
2016
Language:
english
File:
PDF, 326 KB
Your tags:
english, 2016
11
De novo mutations of KIAA2022 in females cause intellectual disability and intractable epilepsy
de Lange, Iris M
,
Helbig, Katherine L
,
Weckhuysen, Sarah
,
Møller, Rikke S
,
Velinov, Milen
,
Dolzhanskaya, Natalia
,
Marsh, Eric
,
Helbig, Ingo
,
Devinsky, Orrin
,
Tang, Sha
,
Mefford, Heather C
,
Myers, Cand
Journal:
Journal of Medical Genetics
Year:
2016
Language:
english
File:
PDF, 698 KB
Your tags:
english, 2016
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