المؤلفون: Beyens, Aude^Aff8, Pottie, Lore^{Aff9, Aff10}, Sips, Patrick^{Aff9, Aff10}, Callewaert, Bert^Aff11

المساهمون: Crusio, Wim E., Series Editor^Aff1, Dong, Haidong, Series Editor^Aff2, Radeke, Heinfried H., Series Editor^Aff3, Rezaei, Nima, Series Editor^Aff4, Steinlein, Ortrud, Series Editor^Aff5, Xiao, Junjie, Series Editor^Aff6, Halper, Jaroslava, editor^Aff7

المصدر: Progress in Heritable Soft Connective Tissue Diseases. 1348:273-309

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المؤلفون: Mohamed, Miski^Aff3, Voet, Michiel^Aff3, Gardeitchik, Thatjana^Aff3, Morava, Eva^{Aff3, Aff4}

المساهمون: Lambris, John D., Series editor^Aff1, Halper, Jaroslava, editor^Aff2

المصدر: Progress in Heritable Soft Connective Tissue Diseases. 802:161-184

Degree: M.D.
BcS
M.D., Ph.D.

المساهمون: Lang, Florian, editor^Aff1

المصدر: Encyclopedia of Molecular Mechanisms of Disease. :479-479

المؤلفون: Nathalie Escande-Beillard, Fariba Afroozan, Abigail Loh, Eva Morava, Yu Xuan Tan, Ariana Kariminejad, Bita Bozorgmehr, Bruno Reversade, Faezeh Mojahedi, Fransiska Malfait, Hamid Reza Khorram Khorshid, Aria Setoodeh, Thatjana Gardeitchik, Alireza Ghanadan, Susan Akbaroghli

المصدر: International Journal of Molecular Sciences, Vol 18, Iss 3, p 635 (2017)
International Journal of Molecular Sciences
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
International Journal of Molecular Sciences, 18, 635-635
International Journal of Molecular Sciences, 18, 3, pp. 635-635

مصطلحات موضوعية: Male, 0301 basic medicine, Pathology, Review, Gerodermia osteodysplastica, FAMILIES, Cutis Laxa, lcsh:Chemistry, Normal cognition, Medicine and Health Sciences, RAB6-INTERACTING (GORAB), GOLGIN, RAB6-INTERACTING (GORAB), ALTERED GLYCOSYLATION, BRAIN, Child, lcsh:QH301-705.5, Spectroscopy, Long philtrum, Skin Diseases, Genetic, Syndrome, General Medicine, DEBRE TYPE, Hypotonia, Computer Science Applications, Phenotype, Pyrroline-5-carboxylate reductase 1 (PYCR1), Child, Preschool, OSTEODYSPLASTICA, Female, Bone Diseases, medicine.symptom, ATP6V0A2, Adult, medicine.medical_specialty, Maxillary hypoplasia, H plus transporting lysosomal V0 subunit A2 (ATP6V0A2), WRINKLY SKIN SYNDROME, Dwarfism, Short stature, Catalysis, Diagnosis, Differential, Inorganic Chemistry, 03 medical and health sciences, medicine, ATPase, Humans, Physical and Theoretical Chemistry, Molecular Biology, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], MUTATIONS, business.industry, Organic Chemistry, Biology and Life Sciences, Infant, medicine.disease, GOLGIN, Dermatology, CONNECTIVE-TISSUE, 030104 developmental biology, lcsh:Biology (General), lcsh:QD1-999, geroderma osteodysplastica, autosomal recessive cutis laxa 2A, ATPase, H+ transporting lysosomal V0 subunit A2 (ATP6V0A2), Wormian bones, autosomal recessive cutis laxa 2B, business, DYSGENESIS, Cutis laxa

وصف الملف: Electronic; application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8c2f88a192bcd4c5e0b08c63dbdddd4d
https://doi.org/10.3390/ijms18030635

المؤلفون: van FrancJan Spronsen, Ron A. Wevers, Saskia B. Wortmann, Helen Michelakakis, B. Chan Lim, Gert Matthijs, Maciej Adamowicz, Eckhard Korsch, Dirk J. Lefeber, Klaziena Niezen-Koning, Renate Zeevaert, Thatjana Gardeitchik, Maïlys Guillard, Eva Morava, Dorus Kouwenberg, Miski Mohamed, Berthold Koletzko, Eliška Marklová, Sebahattin Cirak

المساهمون: Faculteit Medische Wetenschappen/UMCG, Center for Liver, Digestive and Metabolic Diseases (CLDM), Radboud University Medical Center [Nijmegen], Laboratory of Genetic Endocrine and Metabolic Diseases at the Department of Laboratory Medicine, Dubowitz Neuromuscular Centre, Faculty of Medicine in Hradec Kralove [Republique Tchèque], Charles University [Prague] (CU), Department of Enzymology and Cellular Function, Institute of Child Health, Children's Hospital of Cologne, Department of Biochemistry and Experimental Medicine, The Children's Memorial Health Institute, Ludwig-Maximilians University, Ludwig-Maximilians-Universität München (LMU), section Metabolic Diseases, University Medical Center Groningen [Groningen] (UMCG), University of Leuven, Catholic University of Leuven - Katholieke Universiteit Leuven (KU Leuven), Department of Pediatrics, Seoul National University Hostipal

المصدر: Biochimica et Biophysica Acta. Molecular Basis of Disease, 1812, 6, pp. 691-8
Biochimica et biophysica acta-Molecular basis of disease, 1812(6), 691-698. ELSEVIER SCIENCE BV
Biochimica et Biophysica Acta. Molecular Basis of Disease, 1812, 691-8
Biochimica et Biophysica Acta-Molecular Basis of Disease
Biochimica et Biophysica Acta-Molecular Basis of Disease, Elsevier, 2011, ⟨10.1016/j.bbadis.2011.02.011⟩

مصطلحات موضوعية: Male, DISORDER, Glycosylation, BEAP, Neuroinformatics [DCN 3], Bioinformatics, MALDI-MS, Epilepsy, chemistry.chemical_compound, EMG, Congenital Disorders of Glycosylation, 0302 clinical medicine, BRAIN DYSGENESIS, TBG, O-GLYCAN BIOSYNTHESIS, Intellectual disability, ALAT, α-AT, Medicine, EEG, ALTERED GLYCOSYLATION, MUTATION, seizures, 0303 health sciences, TIEF, Transferrin, CONGENITAL CUTIS LAXA, Golgi-system, DEFICIENCY REVEALS, DEBRE TYPE, Seizure, apo C-III, AT-III, 3. Good health, Mitochondrial medicine [IGMD 8], CDG-IIx, Molecular Medicine, Female, Sensorineural hearing loss, lipids (amino acids, peptides, and proteins), OLIGOMERIC GOLGI-COMPLEX, CNS, medicine.symptom, medicine.medical_specialty, animal structures, LLO, Adolescent, CDG type 2, Hearing loss, macromolecular substances, Genomic disorders and inherited multi-system disorders [IGMD 3], 03 medical and health sciences, Internal medicine, COG, Humans, [SDV.BBM]Life Sciences [q-bio]/Biochemistry, Molecular Biology, Molecular Biology, ASAT, 030304 developmental biology, business.industry, Copper metabolism, Infant, Newborn, PMR, Infant, Sudden cardiac arrest, Glycostation disorders [IGMD 4], medicine.disease, carbohydrates (lipids), Endocrinology, GLYCOSYLATION (CDG)-IIX, ER, chemistry, Dysplasia, CDG, Isoelectric Focusing, VEP, business, Perception and Action Glycostation disorders [DCN 1], 030217 neurology & neurosurgery, SDS-PAGE, Cutis laxa

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::10840f1328696369bf1cd44cd1f34e82
https://hdl.handle.net/2066/95723

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