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Springer Nature5
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✓Human Genetics5
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20211
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C. C. RAMIREZ results 5 · Newest (Page 1/1, per page 25)
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Journal: Human Genetics ×Author: C. C. RAMIREZ ×Clear All Filters
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The PMEL gene and merle (dapple) in the dachshund: cryptic, hidden, and mosaic variants demonstrate the need for genetic testing prior to breedingNARA Subscribed
Human Genetics · 2021 · Vol. 140 · Issue 11 · Springer
Blake C. Ballif; Lisa J. Emerson; Christina J. Ramirez; Casey R. Carl; Kyle Sundin; Helen Flores-Smith; Lisa G. Shaffer
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Whole genome sequencing of orofacial cleft trios from the Gabriella Miller Kids First Pediatric Research Consortium identifies a new locus on chromosome 21NARA Subscribed
Human Genetics · 2020 · Vol. 139 · Issue 2 · Springer
Nandita Mukhopadhyay; Madison Bishop; Michael Mortillo; Pankaj Chopra; Jacqueline B. Hetmanski; Margaret A. Taub; Lina M. Moreno; Luz Consuelo Valencia-Ramirez; Claudia Restrepo; George L. Wehby; Jacqueline T. Hecht; Frederic Deleyiannis; Azeez Butali; Seth M. Weinberg; Terri H. Beaty; Jeffrey C. Murray; Elizabeth J. Leslie; Eleanor Feingold; Mary L. Marazita
Orofacial clefts (OFCs) are among the most prevalent craniofacial birth defects worldwide and create a significant public health burden. The majority of OFCs are non-syndromic, and the genetic etiology of non-syndromic OFCs is only partially determined. Here, we analyze whole genome sequence (WGS) data for association with risk of OFCs in European and Colombian families selected from a multicenter family-based OFC study. This...
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Quality assurance checklist and additional considerations for canine clinical genetic testing laboratories: a follow-up to the published standards and guidelinesNARA Subscribed
Human Genetics · 2019 · Vol. 138 · Issue 5 · Springer
Lisa G. Shaffer; Anja Geretschlaeger; Christina J. Ramirez; Blake C. Ballif; Casey Carl
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Standards and guidelines for canine clinical genetic testing laboratoriesNARA Subscribed
Human Genetics · 2019 · Vol. 138 · Issue 5 · Springer
Lisa G. Shaffer; Kyle Sundin; Anja Geretschlaeger; Julia Segert; June E. Swinburne; Ramon Royal; Robert Loechel; Christina J. Ramirez; Blake C. Ballif
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Next generation sequencing-based molecular diagnosis of retinitis pigmentosa: identification of a novel genotype-phenotype correlation and clinical refinementsNARA Subscribed
Human Genetics · 2014 · Vol. 133 · Issue 3 · Springer
Feng Wang; Hui Wang; Han-Fang Tuan; Duy H. Nguyen; Vincent Sun; Vafa Keser; Sara J. Bowne; Lori S. Sullivan; Hongrong Luo; Ling Zhao; Xia Wang; Jacques E. Zaneveld; Jason S. Salvo; Sorath Siddiqui; Louise Mao; Dianna K. Wheaton; David G. Birch; Kari E. Branham; John R. Heckenlively; Cindy Wen; Ken Flagg; Henry Ferreyra; Jacqueline Pei; Ayesha Khan; Huanan Ren; Keqing Wang; Irma Lopez; Raheel Qamar; Juan C. Zenteno; Raul Ayala-Ramirez; Beatriz Buentello-Volante; Qing Fu; David A. Simpson; Yumei Li; Ruifang Sui; Giuliana Silvestri; Stephen P. Daiger; Robert K. Koenekoop; Kang Zhang; Rui Chen
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