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Volume 131; Issue 11
Main
Human Genetics
Volume 131; Issue 11
Human Genetics
Volume 131; Issue 11
1
Traditional and targeted exome sequencing reveals common, rare and novel functional deleterious variants in RET-signaling complex in a cohort of living US patients with urinary tract malformations
Chatterjee, Rajshekhar
,
Ramos, Enrique
,
Hoffman, Mary
,
VanWinkle, Jessica
,
Martin, Daniel R.
,
Davis, Thomas K.
,
Hoshi, Masato
,
Hmiel, Stanley P.
,
Beck, Anne
,
Hruska, Keith
,
Coplen, Doug
,
Liapis, Helen
Journal:
Human Genetics
Year:
2012
Language:
english
File:
PDF, 1.29 MB
Your tags:
english, 2012
2
Genetic markers of ovarian follicle number and menopause in women of multiple ethnicities
Schuh-Huerta, Sonya M.
,
Johnson, Nicholas A.
,
Rosen, Mitchell P.
,
Sternfeld, Barbara
,
Cedars, Marcelle I.
,
Reijo Pera, Renee A.
Journal:
Human Genetics
Year:
2012
Language:
english
File:
PDF, 946 KB
Your tags:
english, 2012
3
Serum vitamins A and E as modifiers of lipid trait genetics in the National Health and Nutrition Examination Surveys as part of the Population Architecture using Genomics and Epidemiology (PAGE) study
Dumitrescu, Logan
,
Goodloe, Robert
,
Brown-Gentry, Kristin
,
Mayo, Ping
,
Allen, Melissa
,
Jin, Hailing
,
Gillani, Niloufar B.
,
Schnetz-Boutaud, Nathalie
,
Dilks, Holli H.
,
Crawford, Dana C.
Journal:
Human Genetics
Year:
2012
Language:
english
File:
PDF, 248 KB
Your tags:
english, 2012
4
The distinct and overlapping phenotypic spectra ofFOXP1andFOXP2in cognitive disorders
Bacon, Claire
,
Rappold, Gudrun A.
Journal:
Human Genetics
Year:
2012
Language:
english
File:
PDF, 342 KB
Your tags:
english, 2012
5
Novel neurodevelopmental information revealed in amniotic fluid supernatant transcripts from fetuses with trisomies 18 and 21
Hui, Lisa
,
Slonim, Donna K.
,
Wick, Heather C.
,
Johnson, Kirby L.
,
Koide, Keiko
,
Bianchi, Diana W.
Journal:
Human Genetics
Year:
2012
Language:
english
File:
PDF, 265 KB
Your tags:
english, 2012
6
Strong purifying selection against gene conversions in the trypsin genes of primates
Petronella, Nicholas
,
Drouin, Guy
Journal:
Human Genetics
Year:
2012
Language:
english
File:
PDF, 905 KB
Your tags:
english, 2012
7
Further characterization ofATP6V0A2-related autosomal recessive cutis laxa
Fischer, Björn
,
Dimopoulou, Aikaterini
,
Egerer, Johannes
,
Gardeitchik, Thatjana
,
Kidd, Alexa
,
Jost, Dominik
,
Kayserili, Hülya
,
Alanay, Yasemin
,
Tantcheva-Poor, Iliana
,
Mangold, Elisabeth
,
Daumer-Haas,
Journal:
Human Genetics
Year:
2012
Language:
english
File:
PDF, 1010 KB
Your tags:
english, 2012
8
Population-based meta-analysis in Caucasians confirms association with COL5A1 and ZNF469 but not COL8A2 with central corneal thickness
Hoehn, René
,
Zeller, Tanja
,
Verhoeven, Virginie J. M.
,
Grus, Franz
,
Adler, Max
,
Wolfs, Roger C.
,
Uitterlinden, André G.
,
Castagne, Raphaële
,
Schillert, Arne
,
Klaver, Caroline C. W.
,
Pfeiffer, Norbert
,
Journal:
Human Genetics
Year:
2012
Language:
english
File:
PDF, 466 KB
Your tags:
english, 2012
9
Genetic variation in MDR1, LPL and eNOS genes and the response to atorvastatin treatment in ischemic stroke
Munshi, Anjana
Journal:
Human Genetics
Year:
2012
Language:
english
File:
PDF, 176 KB
Your tags:
english, 2012
10
Genome-wide analysis of copy number variations reveals that aging processes influence body fat distribution in Korea Associated Resource (KARE) cohorts
Lee, Bo-Young
,
Shin, Dong Hyun
,
Cho, Seoae
,
Seo, Kang-Seok
,
Kim, Heebal
Journal:
Human Genetics
Year:
2012
Language:
english
File:
PDF, 534 KB
Your tags:
english, 2012
11
Mutations in the sarcosine dehydrogenase gene in patients with sarcosinemia
Bar-joseph, Ifat
,
Pras, Elon
,
Reznik-Wolf, Haike
,
Marek-Yagel, Dina
,
Abu-Horvitz, Almogit
,
Dushnitzky, Maya
,
Goldstein, Nurit
,
Rienstein, Shlomit
,
Dekel, Michal
,
Pode-Shakked, Ben
,
Zlotnik, Joseph
,
Be
Journal:
Human Genetics
Year:
2012
Language:
english
File:
PDF, 458 KB
Your tags:
english, 2012
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