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DPH1 syndrome: two novel variants and structural and functional analyses of seven missense variants identified in syndromic patients.

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Title: DPH1 syndrome: two novel variants and structural and functional analyses of seven missense variants identified in syndromic patients.
Authors: Urreizti R; Department of Genetics, Microbiology and Statistics, Faculty of Biology, University of Barcelona, IBUB, IRSJD, CIBERER, Barcelona, Spain. roseruf@yahoo.es., Mayer K; Roche Pharma Research and Early Development. Large Molecule Research, Roche Innovation Center, Munich, Nonnenwald 2, 82377, Penzberg, Germany., Evrony GD; Center for Human Genetics & Genomics, New York University Langone Health, New York, NY, USA., Said E; Section of Medical Genetics, Mater dei Hospital, Msida, Malta.; Department of Anatomy and Cell Biology, University of Malta, Msida, Malta., Castilla-Vallmanya L; Department of Genetics, Microbiology and Statistics, Faculty of Biology, University of Barcelona, IBUB, IRSJD, CIBERER, Barcelona, Spain., Cody NAL; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA.; Sema4, Stamford, CT, USA., Plasencia G; Lead Molecular Design, S.L, Sant Cugat del Vallés, Spain., Gelb BD; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA.; Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai, New York, NY, USA.; Department of Pediatrics, Icahn School of Medicine at Mount Sinai, New York, NY, USA., Grinberg D; Department of Genetics, Microbiology and Statistics, Faculty of Biology, University of Barcelona, IBUB, IRSJD, CIBERER, Barcelona, Spain., Brinkmann U; Roche Pharma Research and Early Development. Large Molecule Research, Roche Innovation Center, Munich, Nonnenwald 2, 82377, Penzberg, Germany., Webb BD; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA.; Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai, New York, NY, USA.; Department of Pediatrics, Icahn School of Medicine at Mount Sinai, New York, NY, USA., Balcells S; Department of Genetics, Microbiology and Statistics, Faculty of Biology, University of Barcelona, IBUB, IRSJD, CIBERER, Barcelona, Spain.
Source: European journal of human genetics : EJHG [Eur J Hum Genet] 2020 Jan; Vol. 28 (1), pp. 64-75. Date of Electronic Publication: 2019 Mar 15.
Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
Journal Info: Publisher: Nature Publishing Group Country of Publication: England NLM ID: 9302235 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1476-5438 (Electronic) Linking ISSN: 10184813 NLM ISO Abbreviation: Eur J Hum Genet Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: DPH1 syndrome: two novel variants and structural and functional analyses of seven missense variants identified in syndromic patients.
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  Data: <searchLink fieldCode="AU" term="%22Urreizti+R%22">Urreizti R</searchLink>; Department of Genetics, Microbiology and Statistics, Faculty of Biology, University of Barcelona, IBUB, IRSJD, CIBERER, Barcelona, Spain. roseruf@yahoo.es.<br /><searchLink fieldCode="AU" term="%22Mayer+K%22">Mayer K</searchLink>; Roche Pharma Research and Early Development. Large Molecule Research, Roche Innovation Center, Munich, Nonnenwald 2, 82377, Penzberg, Germany.<br /><searchLink fieldCode="AU" term="%22Evrony+GD%22">Evrony GD</searchLink>; Center for Human Genetics & Genomics, New York University Langone Health, New York, NY, USA.<br /><searchLink fieldCode="AU" term="%22Said+E%22">Said E</searchLink>; Section of Medical Genetics, Mater dei Hospital, Msida, Malta.; Department of Anatomy and Cell Biology, University of Malta, Msida, Malta.<br /><searchLink fieldCode="AU" term="%22Castilla-Vallmanya+L%22">Castilla-Vallmanya L</searchLink>; Department of Genetics, Microbiology and Statistics, Faculty of Biology, University of Barcelona, IBUB, IRSJD, CIBERER, Barcelona, Spain.<br /><searchLink fieldCode="AU" term="%22Cody+NAL%22">Cody NAL</searchLink>; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA.; Sema4, Stamford, CT, USA.<br /><searchLink fieldCode="AU" term="%22Plasencia+G%22">Plasencia G</searchLink>; Lead Molecular Design, S.L, Sant Cugat del Vallés, Spain.<br /><searchLink fieldCode="AU" term="%22Gelb+BD%22">Gelb BD</searchLink>; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA.; Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai, New York, NY, USA.; Department of Pediatrics, Icahn School of Medicine at Mount Sinai, New York, NY, USA.<br /><searchLink fieldCode="AU" term="%22Grinberg+D%22">Grinberg D</searchLink>; Department of Genetics, Microbiology and Statistics, Faculty of Biology, University of Barcelona, IBUB, IRSJD, CIBERER, Barcelona, Spain.<br /><searchLink fieldCode="AU" term="%22Brinkmann+U%22">Brinkmann U</searchLink>; Roche Pharma Research and Early Development. Large Molecule Research, Roche Innovation Center, Munich, Nonnenwald 2, 82377, Penzberg, Germany.<br /><searchLink fieldCode="AU" term="%22Webb+BD%22">Webb BD</searchLink>; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA.; Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai, New York, NY, USA.; Department of Pediatrics, Icahn School of Medicine at Mount Sinai, New York, NY, USA.<br /><searchLink fieldCode="AU" term="%22Balcells+S%22">Balcells S</searchLink>; Department of Genetics, Microbiology and Statistics, Faculty of Biology, University of Barcelona, IBUB, IRSJD, CIBERER, Barcelona, Spain.
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  Data: <searchLink fieldCode="JN" term="%229302235%22">European journal of human genetics : EJHG</searchLink> [Eur J Hum Genet] 2020 Jan; Vol. 28 (1), pp. 64-75. <i>Date of Electronic Publication: </i>2019 Mar 15.
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Nature+Publishing+Group%22">Nature Publishing Group </searchLink><i>Country of Publication: </i>England <i>NLM ID: </i>9302235 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1476-5438 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2210184813%22">10184813 </searchLink><i>NLM ISO Abbreviation: </i>Eur J Hum Genet <i>Subsets: </i>MEDLINE
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              Text: 2020 Jan
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