يعرض 1 - 10 نتائج من 22 نتيجة بحث عن '"Hall HN"', وقت الاستعلام: 1.70s تنقيح النتائج
  1. 1
    دورية أكاديمية

    المؤلفون: McDonnell AF; MRC Human Genetics Unit, Institute of Genetics and Cancer, University of Edinburgh, Edinburgh, EH4 2XU, UK., Plech M; MRC Human Genetics Unit, Institute of Genetics and Cancer, University of Edinburgh, Edinburgh, EH4 2XU, UK., Livesey BJ; MRC Human Genetics Unit, Institute of Genetics and Cancer, University of Edinburgh, Edinburgh, EH4 2XU, UK., Gerasimavicius L; MRC Human Genetics Unit, Institute of Genetics and Cancer, University of Edinburgh, Edinburgh, EH4 2XU, UK., Owen LJ; MRC Human Genetics Unit, Institute of Genetics and Cancer, University of Edinburgh, Edinburgh, EH4 2XU, UK., Hall HN; MRC Human Genetics Unit, Institute of Genetics and Cancer, University of Edinburgh, Edinburgh, EH4 2XU, UK., FitzPatrick DR; MRC Human Genetics Unit, Institute of Genetics and Cancer, University of Edinburgh, Edinburgh, EH4 2XU, UK., Marsh JA; MRC Human Genetics Unit, Institute of Genetics and Cancer, University of Edinburgh, Edinburgh, EH4 2XU, UK., Kudla G; MRC Human Genetics Unit, Institute of Genetics and Cancer, University of Edinburgh, Edinburgh, EH4 2XU, UK. gkudla@gmail.com.

    المصدر: Molecular systems biology [Mol Syst Biol] 2024 Jun 07. Date of Electronic Publication: 2024 Jun 07.

    نوع المنشور: Journal Article

    بيانات الدورية: Publisher: EMBO Press Country of Publication: Germany NLM ID: 101235389 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1744-4292 (Electronic) Linking ISSN: 17444292 NLM ISO Abbreviation: Mol Syst Biol Subsets: MEDLINE

  2. 2
    دورية أكاديمية

    المؤلفون: Hall HN; Institute of Genetics and Cancer, The University of Edinburgh MRC Human Genetics Unit, Edinburgh, UK nikki.hall@ed.ac.uk., Parry D; Institute of Genetics and Cancer, The University of Edinburgh MRC Human Genetics Unit, Edinburgh, UK.; Illumina United Kingdom, Edinburgh, UK., Halachev M; Institute of Genetics and Cancer, The University of Edinburgh MRC Human Genetics Unit, Edinburgh, UK., Williamson KA; Institute of Genetics and Cancer, The University of Edinburgh MRC Human Genetics Unit, Edinburgh, UK., Donnelly K; Institute of Genetics and Cancer, The University of Edinburgh MRC Human Genetics Unit, Edinburgh, UK., Campos Parada J; Institute of Genetics and Cancer, The University of Edinburgh MRC Human Genetics Unit, Edinburgh, UK., Bhatia S; Institute of Genetics and Cancer, The University of Edinburgh MRC Human Genetics Unit, Edinburgh, UK., Joseph J; MRC Human Genetics Unit, The University of Edinburgh, Edinburgh, UK., Holden S; East Anglia Regional Genetics Service, Addenbrooke's Hospital, Cambridge, UK., Prescott TE; Department of Medical Genetics, Telemark Hospital, Skien, Norway., Bitoun P; Consultations de Génétique médicale, Service de Pédiatrie, CHU Paris-Nord, Hôpital Jean Verdier, Bondy, France., Kirk EP; Centre for Clinical Genetics, Sydney Children's Hospital Randwick, Randwick, New South Wales, Australia., Newbury-Ecob R; Department of Clinical Genetics, University Hospitals Bristol NHS Foundation Trust, Bristol, UK., Lachlan K; University Hospital Southampton, NHS Foundation Trust Wessex Clinical Genetics Service, Southampton, UK., Bernar J; Department of Genetics, Hospital Ruber Internacional, Madrid, Spain., van Heyningen V; MRC Human Genetics Unit, The University of Edinburgh, Edinburgh, UK.; Institute of Ophthalmology, University College London, London, UK., FitzPatrick DR; Institute of Genetics and Cancer, The University of Edinburgh MRC Human Genetics Unit, Edinburgh, UK., Meynert A; Institute of Genetics and Cancer, The University of Edinburgh MRC Human Genetics Unit, Edinburgh, UK.

    المصدر: Journal of medical genetics [J Med Genet] 2024 Feb 21; Vol. 61 (3), pp. 250-261. Date of Electronic Publication: 2024 Feb 21.

    نوع المنشور: Journal Article

    بيانات الدورية: Publisher: British Medical Association Country of Publication: England NLM ID: 2985087R Publication Model: Electronic Cited Medium: Internet ISSN: 1468-6244 (Electronic) Linking ISSN: 00222593 NLM ISO Abbreviation: J Med Genet Subsets: MEDLINE

  3. 3
    دورية أكاديمية

    المؤلفون: Hall HN; MRC Human Genetics Unit, MRC Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh, United Kingdom., Bengani H; MRC Human Genetics Unit, MRC Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh, United Kingdom., Hufnagel RB; National Eye Institute, National Institutes of Health, Bethesda, MD, United States of America., Damante G; Department of Medicine, University of Udine, Udine, Italy., Ansari M; South East Scotland Genetic Service, Western General Hospital, Edinburgh, United Kingdom., Marsh JA; MRC Human Genetics Unit, MRC Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh, United Kingdom., Grimes GR; MRC Human Genetics Unit, MRC Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh, United Kingdom., Kriegsheim AV; MRC Human Genetics Unit, MRC Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh, United Kingdom., Moore D; South East Scotland Genetic Service, Western General Hospital, Edinburgh, United Kingdom., McKie L; MRC Human Genetics Unit, MRC Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh, United Kingdom., Rahmat J; Ophthalmology Department, Hospital Kuala Lumpur, Kuala Lumpur, Malaysia., Mio C; Department of Medicine, University of Udine, Udine, Italy., Blyth M; University of Leeds, St. James's University Hospital, Leeds, United Kingdom., Keng WT; Department of Genetics, Kuala Lumpur Hospital, Kuala Lumpur, Malaysia., Islam L; West Midlands Regional Genetics Service, Birmingham Women's and Children's NHS Foundation Trust, Birmingham, England., McEntargart M; Medical Genetics, St George's University Hospitals NHS Foundation Trust, London, United Kingdom., Mannens MM; Genome Diagnostics laboratory, Department of Clinical Genetics, Amsterdam University Medical Center, Amsterdam, The Netherlands., Heyningen VV; MRC Human Genetics Unit, MRC Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh, United Kingdom., Rainger J; Roslin Institute, University of Edinburgh, Edinburgh, United Kingdom., Brooks BP; National Eye Institute, National Institutes of Health, Bethesda, MD, United States of America., FitzPatrick DR; MRC Human Genetics Unit, MRC Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh, United Kingdom.

    المصدر: PloS one [PLoS One] 2022 Nov 22; Vol. 17 (11), pp. e0268149. Date of Electronic Publication: 2022 Nov 22 (Print Publication: 2022).

    نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

    بيانات الدورية: Publisher: Public Library of Science Country of Publication: United States NLM ID: 101285081 Publication Model: eCollection Cited Medium: Internet ISSN: 1932-6203 (Electronic) Linking ISSN: 19326203 NLM ISO Abbreviation: PLoS One Subsets: MEDLINE

  4. 4
    دورية أكاديمية

    المؤلفون: Burgess FR; Princess Alexandra Eye Pavilion, NHS Lothian, UK.; Ophthalmology Department, School of Medicine, University of St Andrews, UK., Hall HN; Princess Alexandra Eye Pavilion, NHS Lothian, UK.; MRC Human Genetics Unit, Institute of Genetics and Cancer, University of Edinburgh, UK., Megaw R; Princess Alexandra Eye Pavilion, NHS Lothian, UK.; MRC Human Genetics Unit, Institute of Genetics and Cancer, University of Edinburgh, UK.

    المصدر: Asia-Pacific journal of ophthalmology (Philadelphia, Pa.) [Asia Pac J Ophthalmol (Phila)] 2022 Jul-Aug 01; Vol. 11 (4), pp. 380-391. Date of Electronic Publication: 2022 Aug 30.

    نوع المنشور: Journal Article; Systematic Review

    بيانات الدورية: Publisher: Elsevier Inc. on behalf of Asia-Pacific Academy of Ophthalmology and Academy of Asia-Pacific Professors of Ophthalmology Country of Publication: United States NLM ID: 101583622 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2162-0989 (Electronic) Linking ISSN: 21620989 NLM ISO Abbreviation: Asia Pac J Ophthalmol (Phila) Subsets: MEDLINE

  5. 5
    دورية أكاديمية

    المؤلفون: Rowlands CF; Division of Evolution, Infection and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester M13 9PT, UK; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Manchester Academic Health Science Centre, Manchester M13 9WL, UK., Taylor A; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Manchester Academic Health Science Centre, Manchester M13 9WL, UK., Rice G; Division of Evolution, Infection and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester M13 9PT, UK., Whiffin N; Wellcome Centre for Human Genetics, University of Oxford, Oxford OX3 7BN, UK., Hall HN; MRC Human Genetics Unit, Institute of Genetics and Cancer, University of Edinburgh, Edinburgh EH4 2XU, UK., Newman WG; Division of Evolution, Infection and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester M13 9PT, UK; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Manchester Academic Health Science Centre, Manchester M13 9WL, UK., Black GCM; Division of Evolution, Infection and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester M13 9PT, UK; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Manchester Academic Health Science Centre, Manchester M13 9WL, UK., O'Keefe RT; Division of Evolution, Infection and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester M13 9PT, UK., Hubbard S; Division of Evolution, Infection and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester M13 9PT, UK., Douglas AGL; Wessex Clinical Genetics Service, Princess Anne Hospital, University Hospital Southampton NHS Foundation Trust, Coxford Rd, Southampton SO16 5YA, UK; Faculty of Medicine, University of Southampton, Duthie Building, Southampton General Hospital, Tremona Road, Southampton SO16 6YD, UK., Baralle D; Wessex Clinical Genetics Service, Princess Anne Hospital, University Hospital Southampton NHS Foundation Trust, Coxford Rd, Southampton SO16 5YA, UK; Faculty of Medicine, University of Southampton, Duthie Building, Southampton General Hospital, Tremona Road, Southampton SO16 6YD, UK., Briggs TA; Division of Evolution, Infection and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester M13 9PT, UK; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Manchester Academic Health Science Centre, Manchester M13 9WL, UK., Ellingford JM; Division of Evolution, Infection and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester M13 9PT, UK; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Manchester Academic Health Science Centre, Manchester M13 9WL, UK. Electronic address: jamie.ellingford@manchester.ac.uk.

    مؤلفون مشاركون: kConFab Investigators; Sir Peter MacCallum Department of Oncology, The University of Melbourne, Parkville, VIC 3010, Australia; kConFab, Research Department, Peter MacCallum Cancer Centre, Melbourne, VIC 3000, Australia.

    المصدر: American journal of human genetics [Am J Hum Genet] 2022 Feb 03; Vol. 109 (2), pp. 210-222. Date of Electronic Publication: 2022 Jan 21.

    نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

    بيانات الدورية: Publisher: Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1537-6605 (Electronic) Linking ISSN: 00029297 NLM ISO Abbreviation: Am J Hum Genet Subsets: MEDLINE

  6. 6
    دورية أكاديمية

    المؤلفون: Hall HN; Anpario plc, Unit 5, Manton Wood, Worksop, S80 2RS, UK. Heidi.Hall@anpario.com., Wilkinson DJ; Antimicrobial Resistance, Omics and Microbiota research group, Clifton Lane, Nottingham Trent University, Nottingham, NG11 8NS, UK., Le Bon M; Nottingham Trent University, School of Animal, Rural and Environmental Sciences, Southwell, NG25 0QF, UK.

    المصدر: Animal microbiome [Anim Microbiome] 2021 Jan 04; Vol. 3 (1), pp. 2. Date of Electronic Publication: 2021 Jan 04.

    نوع المنشور: Journal Article

    بيانات الدورية: Publisher: BioMed Central Country of Publication: England NLM ID: 101759457 Publication Model: Electronic Cited Medium: Internet ISSN: 2524-4671 (Electronic) Linking ISSN: 25244671 NLM ISO Abbreviation: Anim Microbiome Subsets: PubMed not MEDLINE

  7. 7
    دورية أكاديمية

    المؤلفون: Auer JMT; MRC Human Genetics Unit, University of Edinburgh, Edinburgh EH4 1XU, UK s1611128@sms.ed.ac.uk vladana.vukojevic@ki.se dpapado2@ed.ac.uk., Stoddart JJ; MRC Human Genetics Unit, University of Edinburgh, Edinburgh EH4 1XU, UK., Christodoulou I; MRC Human Genetics Unit, University of Edinburgh, Edinburgh EH4 1XU, UK., Lima A; MRC Human Genetics Unit, University of Edinburgh, Edinburgh EH4 1XU, UK., Skouloudaki K; MRC Human Genetics Unit, University of Edinburgh, Edinburgh EH4 1XU, UK., Hall HN; MRC Human Genetics Unit, University of Edinburgh, Edinburgh EH4 1XU, UK., Vukojević V; Center for Molecular Medicine (CMM), Department of Clinical Neuroscience, Karolinska Institutet, 17176 Stockholm, Sweden s1611128@sms.ed.ac.uk vladana.vukojevic@ki.se dpapado2@ed.ac.uk., Papadopoulos DK; MRC Human Genetics Unit, University of Edinburgh, Edinburgh EH4 1XU, UK s1611128@sms.ed.ac.uk vladana.vukojevic@ki.se dpapado2@ed.ac.uk.

    المصدر: Disease models & mechanisms [Dis Model Mech] 2020 Dec 29; Vol. 13 (12). Date of Electronic Publication: 2020 Dec 29.

    نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't; Review

    بيانات الدورية: Publisher: Company of Biologists Ltd Country of Publication: England NLM ID: 101483332 Publication Model: Electronic Cited Medium: Internet ISSN: 1754-8411 (Electronic) Linking ISSN: 17548403 NLM ISO Abbreviation: Dis Model Mech Subsets: MEDLINE

  8. 8
    دورية أكاديمية

    المؤلفون: Williamson KA; MRC Human Genetics Unit, Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh, UK., Hall HN; MRC Human Genetics Unit, Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh, UK., Owen LJ; MRC Human Genetics Unit, Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh, UK., Livesey BJ; MRC Human Genetics Unit, Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh, UK., Hanson IM; MRC Human Genetics Unit, Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh, UK., Adams GGW; Moorfields Eye Hospital, London, UK., Bodek S; Department of Clinical Genetics, St Michael's Hospital, Southwell Street, Bristol, UK., Calvas P; CHU Toulouse, Service de Génétique Médicale, Hôpital Purpan, Toulouse, France., Castle B; Peninsula Clinical Genetics, Royal Devon and Exeter Hospitals (Heavitree), Exeter, UK., Clarke M; Newcastle Eye Centre, Newcastle upon Tyne Hospitals NHS Foundation Trust, Royal Victoria Infirmary, Newcastle Upon Tyne, UK., Deng AT; Clinical Genetics, Guys and St Thomas NHS Trust, Great Maze Pond, London, UK., Edery P; Hospices Civils de Lyon, Genetic Department and National HHT Reference Center, Femme-Mère-Enfants Hospital, Bron, France., Fisher R; Teeside Genetics Unit, The James Cook University Hospital, Middlesbrough, UK., Gillessen-Kaesbach G; Institute of Human Genetics, University of Lübeck, Lübeck, Germany., Heon E; Department of Ophthalmology and Vision Sciences, Hospital for Sick Children, Toronto, ON, Canada., Hurst J; Department of Clinical Genetics, Great Ormond Street Hospital for Children, London, UK., Josifova D; Clinical Genetics, Guys and St Thomas NHS Trust, Great Maze Pond, London, UK., Lorenz B; Department of Ophthalmology, Justus-Liebig-University Giessen, Giessen, Germany., McKee S; Northern Ireland Regional Genetics Service (NIRGS), Belfast City Hospital, Belfast, UK., Meire F; Department of Ophthalmology, Hôpital Universitaire des Enfants Reine Fabiola, Brussels, Belgium., Moore AT; Moorfields Eye Hospital, London, UK., Parker M; Department of Clinical Genetics, Sheffield Children's NHS Foundation Trust, Sheffield, UK., Reiff CM; Department of Ophthalmology, University of Freiburg, Freiburg, Germany., Self J; University Hospital Southampton, Southampton, UK.; Clinical and Experimental Sciences, University of Southampton, Southampton, UK., Tobias ES; Academic Medical Genetics and Pathology, University of Glasgow, Queen Elizabeth University Hospital, Glasgow, UK., Verheij JBGM; Department of Genetics, University of Groningen, University Medical Center, Groningen, The Netherlands., Willems M; Medical Genetics, CHRU de Montpellier, Montpellier, France., Williams D; Clinical Genetics Unit, Birmingham Women's Hospital, Birmingham, UK., van Heyningen V; MRC Human Genetics Unit, Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh, UK., Marsh JA; MRC Human Genetics Unit, Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh, UK., FitzPatrick DR; MRC Human Genetics Unit, Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh, UK. david.fitzpatrick@ed.ac.uk.

    المصدر: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2020 Mar; Vol. 22 (3), pp. 598-609. Date of Electronic Publication: 2019 Nov 08.

    نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

    بيانات الدورية: Publisher: Elsevier Country of Publication: United States NLM ID: 9815831 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1530-0366 (Electronic) Linking ISSN: 10983600 NLM ISO Abbreviation: Genet Med Subsets: MEDLINE

  9. 9
    دورية أكاديمية

    المؤلفون: Hall HN; MRC Human Genetics Unit, MRC Institute of Genetics and Molecular Medicine, The University of Edinburgh, Western General Hospital, Crewe Road, Edinburgh, EH4 2XU, UK. nikki.hall@ed.ac.uk., Williamson KA; MRC Human Genetics Unit, MRC Institute of Genetics and Molecular Medicine, The University of Edinburgh, Western General Hospital, Crewe Road, Edinburgh, EH4 2XU, UK., FitzPatrick DR; MRC Human Genetics Unit, MRC Institute of Genetics and Molecular Medicine, The University of Edinburgh, Western General Hospital, Crewe Road, Edinburgh, EH4 2XU, UK.

    المصدر: Human genetics [Hum Genet] 2019 Sep; Vol. 138 (8-9), pp. 881-898. Date of Electronic Publication: 2018 Sep 22.

    نوع المنشور: Journal Article; Review

    بيانات الدورية: Publisher: Springer Verlag Country of Publication: Germany NLM ID: 7613873 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1432-1203 (Electronic) Linking ISSN: 03406717 NLM ISO Abbreviation: Hum Genet Subsets: MEDLINE

    SCR Disease Name: Aniridia cerebellar ataxia mental deficiency

  10. 10
    دورية أكاديمية

    المؤلفون: Timlin HM; Ophthalmology Department, Princess Alexandra Eye Pavilion, Edinburgh, UK., Hall HN; Ophthalmology Department, Princess Alexandra Eye Pavilion, Edinburgh, UK., Foot B; Royal College of Ophthalmologists, London, UK., Koay P; Ophthalmology Department, Princess Alexandra Eye Pavilion, Edinburgh, UK.

    المصدر: The British journal of ophthalmology [Br J Ophthalmol] 2018 Sep; Vol. 102 (9), pp. 1298-1302. Date of Electronic Publication: 2017 Dec 15.

    نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

    بيانات الدورية: Publisher: BMJ Pub. Group Country of Publication: England NLM ID: 0421041 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1468-2079 (Electronic) Linking ISSN: 00071161 NLM ISO Abbreviation: Br J Ophthalmol Subsets: MEDLINE