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NRXN1 deletion syndrome; phenotypic and penetrance data from 34 families.

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Title: NRXN1 deletion syndrome; phenotypic and penetrance data from 34 families.
Authors: Al Shehhi M; Department of Clinical Genetics, OLCHC, Dublin12, Ireland., Forman EB; Children's University Hospital, Temple St., Dublin, Ireland. Electronic address: eva.forman@cuh.ie., Fitzgerald JE; Trinity Centre for Health Sciences, St. James's Hospital, Dublin, Ireland; Trinity Institute of Neuroscience, Dublin, Ireland., McInerney V; HRB Clinical Research Facility, National University of Ireland Galway, Newcastle Road Galway, Ireland., Krawczyk J; HRB Clinical Research Facility, National University of Ireland Galway, Newcastle Road Galway, Ireland., Shen S; Regenerative Medicine Institute, School of Medicine, (NUI) Galway, Ireland., Betts DR; Department of Clinical Genetics, OLCHC, Dublin12, Ireland., Ardle LM; Department of Clinical Genetics, OLCHC, Dublin12, Ireland., Gorman KM; Children's University Hospital, Temple St., Dublin, Ireland., King MD; Children's University Hospital, Temple St., Dublin, Ireland; Academic Center on Rare Diseases, School of Medicine and Medical Science, University College Dublin, Ireland., Green A; Department of Clinical Genetics, OLCHC, Dublin12, Ireland; Children's University Hospital, Temple St., Dublin, Ireland; Academic Center on Rare Diseases, School of Medicine and Medical Science, University College Dublin, Ireland., Gallagher L; Trinity Centre for Health Sciences, St. James's Hospital, Dublin, Ireland., Lynch SA; Department of Clinical Genetics, OLCHC, Dublin12, Ireland; Children's University Hospital, Temple St., Dublin, Ireland; Academic Center on Rare Diseases, School of Medicine and Medical Science, University College Dublin, Ireland.
Source: European journal of medical genetics [Eur J Med Genet] 2019 Mar; Vol. 62 (3), pp. 204-209. Date of Electronic Publication: 2018 Jul 18.
Publication Type: Journal Article
Journal Info: Publisher: Elsevier Country of Publication: Netherlands NLM ID: 101247089 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1878-0849 (Electronic) Linking ISSN: 17697212 NLM ISO Abbreviation: Eur J Med Genet Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: NRXN1 deletion syndrome; phenotypic and penetrance data from 34 families.
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  Data: <searchLink fieldCode="AU" term="%22Al+Shehhi+M%22">Al Shehhi M</searchLink>; Department of Clinical Genetics, OLCHC, Dublin12, Ireland.<br /><searchLink fieldCode="AU" term="%22Forman+EB%22">Forman EB</searchLink>; Children's University Hospital, Temple St., Dublin, Ireland. Electronic address: eva.forman@cuh.ie.<br /><searchLink fieldCode="AU" term="%22Fitzgerald+JE%22">Fitzgerald JE</searchLink>; Trinity Centre for Health Sciences, St. James's Hospital, Dublin, Ireland; Trinity Institute of Neuroscience, Dublin, Ireland.<br /><searchLink fieldCode="AU" term="%22McInerney+V%22">McInerney V</searchLink>; HRB Clinical Research Facility, National University of Ireland Galway, Newcastle Road Galway, Ireland.<br /><searchLink fieldCode="AU" term="%22Krawczyk+J%22">Krawczyk J</searchLink>; HRB Clinical Research Facility, National University of Ireland Galway, Newcastle Road Galway, Ireland.<br /><searchLink fieldCode="AU" term="%22Shen+S%22">Shen S</searchLink>; Regenerative Medicine Institute, School of Medicine, (NUI) Galway, Ireland.<br /><searchLink fieldCode="AU" term="%22Betts+DR%22">Betts DR</searchLink>; Department of Clinical Genetics, OLCHC, Dublin12, Ireland.<br /><searchLink fieldCode="AU" term="%22Ardle+LM%22">Ardle LM</searchLink>; Department of Clinical Genetics, OLCHC, Dublin12, Ireland.<br /><searchLink fieldCode="AU" term="%22Gorman+KM%22">Gorman KM</searchLink>; Children's University Hospital, Temple St., Dublin, Ireland.<br /><searchLink fieldCode="AU" term="%22King+MD%22">King MD</searchLink>; Children's University Hospital, Temple St., Dublin, Ireland; Academic Center on Rare Diseases, School of Medicine and Medical Science, University College Dublin, Ireland.<br /><searchLink fieldCode="AU" term="%22Green+A%22">Green A</searchLink>; Department of Clinical Genetics, OLCHC, Dublin12, Ireland; Children's University Hospital, Temple St., Dublin, Ireland; Academic Center on Rare Diseases, School of Medicine and Medical Science, University College Dublin, Ireland.<br /><searchLink fieldCode="AU" term="%22Gallagher+L%22">Gallagher L</searchLink>; Trinity Centre for Health Sciences, St. James's Hospital, Dublin, Ireland.<br /><searchLink fieldCode="AU" term="%22Lynch+SA%22">Lynch SA</searchLink>; Department of Clinical Genetics, OLCHC, Dublin12, Ireland; Children's University Hospital, Temple St., Dublin, Ireland; Academic Center on Rare Diseases, School of Medicine and Medical Science, University College Dublin, Ireland.
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  Data: <searchLink fieldCode="JN" term="%22101247089%22">European journal of medical genetics</searchLink> [Eur J Med Genet] 2019 Mar; Vol. 62 (3), pp. 204-209. <i>Date of Electronic Publication: </i>2018 Jul 18.
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Elsevier%22">Elsevier </searchLink><i>Country of Publication: </i>Netherlands <i>NLM ID: </i>101247089 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1878-0849 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2217697212%22">17697212 </searchLink><i>NLM ISO Abbreviation: </i>Eur J Med Genet <i>Subsets: </i>MEDLINE
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        Value: 10.1016/j.ejmg.2018.07.015
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              Text: 2019 Mar
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