Ketil R. Heimdal

基本信息

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职业迁徙

个人简介

Skills and Expertise
Clinical Genetics
Clinical Molecular Genetics
Clinical Laboratory Genetics
Rare Diseases
Registries

研究兴趣

论文共 157 篇作者统计合作学者相似作者

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Choanal Atresia: A Review of Surgical Outcomes in a Tertiary Medical Center

Sinan Dheyauldeen,Ketil Heimdal,Terje Osnes,Harriet Akre, Lars Olsson

WORLD JOURNAL OF OTORHINOLARYNGOLOGY-HEAD & NECK SURGERY (2024)

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Tracheobronchomalacia is Common in Children with Primary Ciliary Dyskinesia -- a Case Note Review

Synne S. Kennelly,Vegard Hovland,Iren Lindbak Matthews,Finn P. Reinholt,Havard Skjerven,Ketil Heimdal,Suzanne Crowley

PEDIATRIC PULMONOLOGYno. 12 (2024): 3560-3568

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Elevated FVIII Levels in Hereditary Hemorrhagic Telangiectasia: Implications for Clinical Management

Ole Jakob Jorgensen,Johan Edvard Steineger,Andreas Hillarp, Erik Pareli Waland,Pal Andre Holme,Ketil Heimdal,Sinan Dheyauldeen

LARYNGOSCOPE INVESTIGATIVE OTOLARYNGOLOGYno. 1 (2024)

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Gastrointestinal Symptoms in Adults with Fabry Disease and Their Associations with Physical and Mental Health

Mina Susanne Weedon-Fekjær,Hege K. Pihlstrøm, Harald Weedon-Fekjær,Birgitte Berentsen,Jan Gunnar Hatlebakk, Birgitte Bjerkely,Olga Karin Solberg,Ketil Riddervold Heimdal,Kristin Ørstavik, Trond G. Jenssen,Solrun Sigurdardottir

crossref（2024）

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Ciliopathy Patient Variants Reveal Organelle-Specific Functions for TUBB4B in Axonemal Microtubules

Daniel O. Dodd,Sabrina Mechaussier,Patricia L. Yeyati,Fraser McPhie,Jacob R. Anderson, Chen Jing Khoo,Amelia Shoemark,Deepesh K. Gupta,Thomas Attard,Maimoona A. Zariwala,Marie Legendre,Diana Bracht,Julia Wallmeier,Miao Gui,Mahmoud R. Fassad,David A. Parry,Peter A. Tennant,Alison Meynert,Gabrielle Wheway,Lucas Fares-Taie,Holly A. Black,Rana Mitri-Frangieh,Catherine Faucon,Josseline Kaplan,Mitali Patel,Lisa McKie,Roly Megaw,Christos Gatsogiannis,Mai A. Mohamed,Stuart Aitken,Philippe Gautier, Finn R. Reinholt,Robert A. Hirst,Chris O'Callaghan,Ketil Heimdal,Mathieu Bottier,Estelle Escudier,Suzanne Crowley,Maria Descartes,Ethylin W. Jabs,Priti Kenia,Jeanne Amiel,Giacomo Maria Bacci,Claudia Calogero,Viviana Palazzo,Lucia Tiberi,Ulrike Bluemlein,Andrew Rogers,Jennifer A. Wambach,Daniel J. Wegner,Anne B. Fulton,Margaret Kenna,Margaret Rosenfeld,Ingrid A. Holm,Alan Quigley,Emma A. Hall,Laura C. Murphy,Diane M. Cassidy,Alex von Kriegsheim,Jean-Francois Papon,Laurent Pasquier,Marlene S. Murris,James D. Chalmers,Claire Hogg,Kenneth A. Macleod,Don S. Urquhart,Stefan Unger,Timothy J. Aitman,Serge Amselem,Margaret W. Leigh,Michael R. Knowles,Heymut Omran,Hannah M. Mitchison,Alan Brown,Joseph A. Marsh,Julie P. I. Welburn,Shih-Chieh Ti,Amjad Horani,Jean-Michel Rozet,Isabelle Perrault,Pleasantine Mill

SCIENCEno. 6694 (2024)

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Dual Molecular Effects of Constitutional SF3B2 Variants Cause a Novel Dominant Spliceosomopathy Displaying Retinitis Pigmentosa or Developmental Skeletal Anomalies

EUROPEAN JOURNAL OF HUMAN GENETICS (2023): 71-71

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Effectiveness and Safety of Everolimus Treatment in Patients with Tuberous Sclerosis Complex in Real-World Clinical Practice

Ine Cockerell,Jakob Christensen,Christina E. Hoei-Hansen, Lotte Holst,Mikkel Grenaa Frederiksen,Aart Imran Issa-Epe,Bård Nedregaard,Ragnar Solhoff,Ketil Heimdal,Cecilie Johannessen Landmark,Caroline Lund,Terje Nærland

ORPHANET JOURNAL OF RARE DISEASESno. 1 (2023)

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Whole‐exome Sequencing in Syndromic Craniosynostosis Increases Diagnostic Yield and Identifies Candidate Genes in Osteogenic Signaling Pathways

Elin Tonne,Bernt Johan Due-Tonnessen,Magnus Dehli Vigeland,Silja Svanstrom Amundsen,Teodora Ribarska, Pamela Marika Asten,Ying Sheng,Eirik Helseth,Gregor Duncan Gilfillan,Inger-Lise Mero,Ketil Riddervold Heimdal

American Journal of Medical Genetics Part A（2022）

引用8浏览0WOS引用

The Impact of Demographic and Clinical Characteristics on the Trajectories of Health-Related Quality of Life among Patients with Fabry Disease

Sigurdardottir Solrun, Bjerkely Birgitte,University of Oslo,Mathisen Per,von der Lippe Charlotte,Ørstavik Kristin,Heimdal Ketil,Dahle Dag Olav,Weedon-Fekjær Mina Susanne,Solberg Olga,Pihlstrøm Hege K.

Orphanet journal of rare diseases（2021）

引用5浏览0WOS引用

Efficacy and safety of everolimus in patients with tuberous sclerosis complex

Ine Cockerell,Jakob Christensen,Christina Hoi-Hansen, Lotte Holst, Mikkel Frederiksen,Caroline Lund,Cecilie Johannessen Landmark,Ketil Heimdal,Ragnar Solhoff,Terje Naerland

EPILEPSIA（2021）

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论文共 157 篇作者统计合作学者相似作者