المؤلفون: Nicolas De Schryver, Xavier Wittebole, Peter Van den Bergh, Vincent Haufroid, Eric Goffin, Philippe Hantson

المصدر: Case Reports in Nephrology, Vol 2015 (2015)

مصطلحات موضوعية: Diseases of the genitourinary system. Urology, RC870-923

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/2090-6641Test; https://doaj.org/toc/2090-665XTest

الوصول الحر: https://doaj.org/article/c6aad163512a40a89b8195895be408d9Test

المؤلفون: Nicolas Cecere, Corinne Hubinont, Arnauld Kabulu Kadingi, Marie-Françoise Vincent, Peter Van den Bergh, Anna Onnela, Philippe Hantson

المصدر: Case Reports in Obstetrics and Gynecology, Vol 2013 (2013)

مصطلحات موضوعية: Gynecology and obstetrics, RG1-991

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/2090-6684Test; https://doaj.org/toc/2090-6692Test

الوصول الحر: https://doaj.org/article/cdcd997a27944fcfa0889ff508db3162Test

المؤلفون: Russell Lane, Isabelle Pénisson-Besnier, Wojtek Rakowicz, Charlotte K. Brierley, Cheryl Longman, Fiona Norwood, Andrew P. Jackson, Dieter Gläser, Matt Parton, Rumaisa Bashir, David Hilton-Jones, Debbie Hicks, Benedikt Schoser, Marcus Deschauer, Paul Maddison, John Nixon, Laura E. Rufibach, Meriel McEntagart, Isabel Illa, John McConville, Rita Barresi, John B Winer, Herbert Schreiber, Grainne S. Gorman, Laurence A. Bindoff, Christopher J Price, Hanns Lochmüller, Partha Ray, Simon Hammans, David Cottrell, Mark Roberts, Anthony H.V. Schapira, J. Hudson, Francesco Muntoni, Elizabeth Harris, Jay Panicker, Richard Walters, Ali Al-Memar, Robert G. Cooper, Esther Hwang, Sabine Krause, Pamela J. Shaw, Robert J. Swingler, Michelle Eagle, Bertold Schrank, Anna Sarkozy, Andrew W. Gibson, Maggie C. Walter, Richard E. Petty, Michael G. Hanna, Kathryn R. Wagner, Chris Turner, Peter Van den Bergh, Aijaz Khan, Geraldine Bailey, Michela Guglieri, NP Davies, Kate Bushby, Volker Straub, Jürgen Seeger, Liesbeth De Waele, Steve Laval, Douglass M. Turnbull

المساهمون: UCL - SSS/IONS/NEUR - Clinical Neuroscience, UCL - (SLuc) Service de neurologie

المصدر: Human Mutation, Vol. 34, no.8, p. 1111-1118 (2013)
Human mutation, 2013, Vol.34(8), pp.1111-1118 [Peer Reviewed Journal]
HUMAN MUTATION
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
instname

مصطلحات موضوعية: muscular dystrophy, Adult, Male, medicine.medical_specialty, Anoctamins, Gene mutation, Biology, ANO5, medicine.disease_cause, Exon, Sex Factors, Chloride Channels, Internal medicine, Prevalence, Genetics, medicine, Muscular dystrophy, Humans, Allele, Myopathy, Genetics (clinical), Retrospective Studies, Aged, LGMD2L, Mutation, Clinical pathology, Gender, Genetic Variation, Middle Aged, medicine.disease, Europe, Phenotype, Muscular Dystrophies, Limb-Girdle, Female, medicine.symptom, Limb-girdle muscular dystrophy

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::de3e6e91bac2c99f929b8cc933a27687Test
https://doi.org/10.1002/humu.22342Test

المؤلفون: Anna Päivikki Onnela, Marie-Françoise Vincent, Nicolas Cecere, Corinne Hubinont, Philippe Hantson, Peter Van den Bergh, Arnauld Kabulu Kadingi

المصدر: Case Reports in Obstetrics and Gynecology
Case Reports in Obstetrics and Gynecology, Vol 2013 (2013)

مصطلحات موضوعية: Pregnancy, Pediatrics, medicine.medical_specialty, Sodium bicarbonate, business.industry, Metabolic disorder, Obstetrics and Gynecology, Anion gap, Case Report, Metabolic acidosis, medicine.disease, lcsh:Gynecology and obstetrics, Tachypnea, chemistry.chemical_compound, chemistry, Anesthesia, medicine, Fetal distress, Ketonuria, medicine.symptom, business, lcsh:RG1-991

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e9e766316823505683e1a14cfbfb10e3Test
https://doi.org/10.1155/2013/847942Test