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DPH1 syndrome: two novel variants and structural and functional analyses of seven missense variants identified in syndromic patients.
Urreizti, Roser; Mayer, Klaus; Evrony, Gilad D; Said, Edith; Castilla-Vallmanya, Laura; Cody, Neal A L; Plasencia, Guillem; Gelb, Bruce D; Grinberg, Daniel; Brinkmann, Ulrich; Webb, Bryn D; Balcells, Susanna.
Affiliation
  • 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.
  • Castilla-Vallmanya L; Department of Anatomy and Cell Biology, University of Malta, Msida, Malta.
  • Cody NAL; Department of Genetics, Microbiology and Statistics, Faculty of Biology, University of Barcelona, IBUB, IRSJD, CIBERER, Barcelona, Spain.
  • Plasencia G; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
  • Gelb BD; Sema4, Stamford, CT, USA.
  • Grinberg D; Lead Molecular Design, S.L, Sant Cugat del Vallés, Spain.
  • Brinkmann U; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
  • Webb BD; Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
  • Balcells S; Department of Pediatrics, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
Eur J Hum Genet ; 28(1): 64-75, 2020 01.
Article in En | MEDLINE | ID: mdl-30877278
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Minor Histocompatibility Antigens / Mutation, Missense / Tumor Suppressor Proteins / Neurodevelopmental Disorders Type of study: Prognostic_studies Limits: Adult / Child / Female / Humans / Infant / Male Language: En Journal: Eur J Hum Genet Journal subject: GENETICA MEDICA Year: 2020 Document type: Article Affiliation country:
Fulltext
Add to My VHL
Print
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PubMed Links
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Minor Histocompatibility Antigens / Mutation, Missense / Tumor Suppressor Proteins / Neurodevelopmental Disorders Type of study: Prognostic_studies Limits: Adult / Child / Female / Humans / Infant / Male Language: En Journal: Eur J Hum Genet Journal subject: GENETICA MEDICA Year: 2020 Document type: Article Affiliation country: