المؤلفون: Marzia Pollazzon, Stefano Giuseppe Caraffi, Silvia Faccioli, Simonetta Rosato, Heidi Fodstad, Belinda Campos-Xavier, Emanuele Soncini, Giuseppina Comitini, Daniele Frattini, Teresa Grimaldi, Maria Marinelli, Davide Martorana, Antonio Percesepe, Silvia Sassi, Carlo Fusco, Giancarlo Gargano, Andrea Superti-Furga, Livia Garavelli

المصدر: Genes; Volume 13; Issue 1; Pages: 29
Genes
Genes, Vol 13, Iss 29, p 29 (2022)
Genes, vol. 13, no. 1, pp. 29

مصطلحات موضوعية: Adult, Male, Adolescent, Genotype, QH426-470, arthrogryposis, distal arthrogryposis, multiple pterygium syndrome (MPS), Escobar syndrome, amyoplasia, genetic testing, differential diagnosis, prognosis, Pterygium, Article, Pregnancy, Genetics, Humans, Abnormalities, Multiple, Child, Genetics (clinical), Loeys-Dietz Syndrome, Middle Aged, Pedigree, Phenotype, Child, Preschool, Mutation, Skin Abnormalities, Female, Malignant Hyperthermia, Conjunctiva, Abnormalities, Multiple/genetics, Arthrogryposis/genetics, Conjunctiva/abnormalities, Loeys-Dietz Syndrome/genetics, Malignant Hyperthermia/genetics, Mutation/genetics, Pterygium/genetics, Skin Abnormalities/genetics

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::74ae30ac0850858077df740a20c8d3a8

المؤلفون: Norine Voisin, Frédéric Tran Mau-Them, Bruno Reversade, Damien Sanlaville, Charles Shaw-Smith, Qamariya Ambusaidi, Egle Preiksaitiene, Saumya Shekhar Jamuar, Glen R. Monroe, Angeline Lai, Alexandre Reymond, Michaël Wiederkehr, Jamel Chelly, Audrey Putoux, Bernd Roechert, Sylvain Pradervand, Caroline F. Wright, Peter M. van Hasselt, Loreta Cimbalistienė, Mais Hashem, Marguerite Neerman-Arbez, Gaetan Lesca, Vaidutis Kučinskas, Gijs van Haaften, Lim J. Ying, Fabienne Allias, Ioannis Xenarios, Laurent Guibaud, Wesam Kurdi, Tommaso Pippucci, Lucie Gueneau, Hanan E. Shamseldin, Julien Delafontaine, Carine Bonnard, Laima Ambrozaityte, Nicolas Guex, Fowzan S. Alkuraya, Richard J. Fish, Erica Schindewolf

المساهمون: Roechert, Bernd, Xenarios, Ioannis, Neerman Arbez, Marguerite, DDD Study, ACS - Amsterdam Cardiovascular Sciences, ARD - Amsterdam Reproduction and Development, Center for Reproductive Medicine, ACS - Heart failure & arrhythmias, ACS - Diabetes & metabolism, Lee Kong Chian School of Medicine (LKCMedicine), Obstetrics and gynaecology

المصدر: American Journal of Human Genetics
The American journal of human genetics, Cell Press, 2018, Vol. 102, p. 116-132
American Journal of Human Genetics, Vol. 102, No 1 (2018) pp. 116-132
American journal of human genetics, vol. 102, no. 1, pp. 116-132
American journal of human genetics, 102(1), 116-132. Cell Press
American Journal of Human Genetics, 102(1), 116. Cell Press
DDD Study 2018, ' KIAA1109 Variants Are Associated with a Severe Disorder of Brain Development and Arthrogryposis ', American journal of human genetics, vol. 102, no. 1, pp. 116-132 . https://doi.org/10.1016/j.ajhg.2017.12.002

مصطلحات موضوعية: 0301 basic medicine, Male, Pathology, Microphthalmia, 0302 clinical medicine, Adolescent, Animals, Arthrogryposis/genetics, Brain/diagnostic imaging, Brain/embryology, Brain/pathology, Child, Female, Gene Knockdown Techniques, Humans, Infant, Infant, Newborn, Magnetic Resonance Imaging, Mutation/genetics, Pedigree, Proteins/genetics, Zebrafish, Zebrafish Proteins/genetics, arthrogryposis, brain malformations, cerebellar hypoplasia, clubfoot, hydrocephaly, whole-exome sequencing, Medicine, Missense mutation, Science::Medicine [DRNTU], ddc:576.5, Global developmental delay, Cerebellar hypoplasia, Genetics (clinical), Exome sequencing, Arthrogryposis, Hydrocephaly, Brain, Clubfoot, Whole-exome sequencing, medicine.symptom, medicine.medical_specialty, Article, 03 medical and health sciences, Dysgenesis, Genetics, Syndactyly, business.industry, Brain malformations, Proteins, Zebrafish Proteins, medicine.disease, 030104 developmental biology, Mutation, business, 030217 neurology & neurosurgery

وصف الملف: application/pdf; image/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9c23a0c7a41844e5f0cd56648dd1d817
http://europepmc.org/articles/PMC5777449

المؤلفون: Tajsharghi, Homa, 1968, Kimber, Eva, 1951, Holmgren, Daniel, 1945, Tulinius, Mar, 1953, Oldfors, Anders, 1951

المصدر: Neurology. 68(10):772-5

مصطلحات موضوعية: MEDICAL AND HEALTH SCIENCES, MEDICIN OCH HÄLSOVETENSKAP, Adult, Aged, Arginine/genetics, Arthrogryposis/*genetics, DNA Mutational Analysis/methods, Exons, Family Health, Female, Humans, Muscle Weakness/*genetics, Mutation, Missense/*genetics, Tropomyosin/*genetics, Tryptophan/genetics

URL الوصول: https://gup.ub.gu.se/publication/58869