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Michael D. Kessler et al.
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Jakob M. Goldmann et al.
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De novo mutations in regulatory elements in neurodevelopmental disorders
Patrick J. Short et al.
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Jedidiah Carlson et al.
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Jeremy F. McRae et al.
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Sheng Chih Jin et al.
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Vitaly A. Kushnir et al.
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PIECEWISESEM: Piecewise structural equation modelling in R for ecology, evolution, and systematics
Jonathan S. Lefcheck
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Canvas: versatile and scalable detection of copy number variants
Eric Roller et al.
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Jakob M. Goldmann et al.
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Alejandro Sifrim et al.
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Assisted Reproductive Technology and Birth Defects Among Liveborn Infants in Florida, Massachusetts, and Michigan, 2000-2010
Sheree L. Boulet et al.
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Brent S. Pedersen et al.
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Perinatal outcomes associated with assisted reproductive technology: the Massachusetts Outcomes Study of Assisted Reproductive Technologies (MOSART)
Eugene Declercq et al.
FERTILITY AND STERILITY (2015)
WHATSHAP: Weighted Haplotype Assembly for Future-Generation Sequencing Reads
Murray Patterson et al.
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Spermatogenesis, DNA damage and DNA repair mechanisms in male infertility
Sezgin Gunes et al.
REPRODUCTIVE BIOMEDICINE ONLINE (2015)
De novo mutations in congenital heart disease with neurodevelopmental and other congenital anomalies
Jason Homsy et al.
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Xiaokui Yang et al.
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Ivan Iossifov et al.
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John J. McGrath et al.
JAMA PSYCHIATRY (2014)
Assisted reproductive technology and birth defects: a systematic review and meta-analysis
Michele Hansen et al.
HUMAN REPRODUCTION UPDATE (2013)
De novo mutations in epileptic encephalopathies
Andrew S. Allen et al.
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Samir Zaidi et al.
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Gary L. Harton et al.
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Junhao Yan et al.
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Ani Manichaikul et al.
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The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data
Aaron McKenna et al.
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Morey Schachter et al.
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Effects of technology or maternal factors on perinatal outcome after assisted fertilisation:: a population-based cohort study
Liv Bente Romundstad et al.
LANCET (2008)
Infertility, infertility treatment, and congenital malformations: Danish national birth cohort
Jin Liang Zhu et al.
BMJ-BRITISH MEDICAL JOURNAL (2006)
Mouse oocyte meiotic resumption and polar body extrusion in vitro are differentially influenced by FSH, epidermal growth factor and meiosis-activating sterol
G Coticchio et al.
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FSH and LH induce progesterone production and progesterone receptor synthesis in cumulus cells: a requirement for meiotic resumption in porcine oocytes
M Shimada et al.
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