المؤلفون: Alexandra Mc Cullough, Zuzana Pakanová, Anna Hlavatá, A. Salingova, Barbara Siváková, Claudia Šebová, Jan Mucha, Marek Nemčovič, Peter Barath, Ingrid Brucknerová, Vladimir Bzduch, Dimitra-Evanthia Lekka, Jana Ziburová, Martina Skokňová, Sergej Šesták, Jana Bellová, Jana Brucknerová, Mária Ostrožlíková, Gabriela Hrčková

المصدر: American journal of medical genetics. Part A. 185(11)

مصطلحات موضوعية: Male, Slovakia, Glycosylation, Mutation, Missense, Biology, medicine.disease_cause, Genetic analysis, Asymptomatic, Mannosyltransferases, Exon, Congenital Disorders of Glycosylation, Polysaccharides, Genetics, medicine, Humans, Genetic Predisposition to Disease, Genetic Testing, Gene, Genetics (clinical), chemistry.chemical_classification, Mutation, Point mutation, Homozygote, Infant, Newborn, Transferrin, Infant, medicine.disease, Molecular biology, Phenotype, chemistry, Female, medicine.symptom, Congenital disorder of glycosylation

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f2d7ec8e62bc28d3c79c3b5d3d7de33eTest
https://pubmed.ncbi.nlm.nih.gov/34467644Test

المؤلفون: Anja Lisbeth Frederiksen, Diva D. De León, Matthew Lines, Henrik Thybo Christesen, Anne Benner, Yazeid Alhaidan, Klaus Brusgaard, Rebecca Sparkes

المصدر: American Journal of Medical Genetics. Part a
Benner, A, Alhaidan, Y, Lines, M A, Brusgaard, K, De Leon, D D, Sparkes, R, Frederiksen, A L & Christesen, H T 2021, ' PHKA2 variants expand the phenotype of phosphorylase B kinase deficiency to include patients with ketotic hypoglycemia only ', American Journal of Medical Genetics. Part A, vol. 185, no. 10, pp. 2959-2975 . https://doi.org/10.1002/ajmg.a.62383Test
Benner, A, Alhaidan, Y, Lines, M A, Brusgaard, K, De Leon, D D, Sparkes, R, Frederiksen, A L & Christesen, H T 2021, ' PHKA2 variants expand the phenotype of phosphorylase B kinase deficiency to include patients with ketotic hypoglycemia only ', American Journal of Medical Genetics, Part A, vol. 185, no. 10, pp. 2959-2975 . https://doi.org/10.1002/ajmg.a.62383Test

مصطلحات موضوعية: 0301 basic medicine, Male, Propionic Acidemia, next‐generation sequencing, 030105 genetics & heredity, ketotic hypoglycemia, Missense mutation, Glycogen storage disease, whole-exome sequencing, Idiopathic Ketotic Hypoglycemia, Child, Genetics (clinical), Exome sequencing, High-Throughput Nucleotide Sequencing, Pedigree, Phenotype, Child, Preschool, Female, Original Article, whole‐exome sequencing, medicine.symptom, Hepatomegaly, Adult, medicine.medical_specialty, Adolescent, Phosphorylase Kinase, Mutation, Missense, inborn errors of metabolism, Short stature, Asymptomatic, Diagnosis, Differential, 03 medical and health sciences, Young Adult, glycogen storage disease, Internal medicine, Exome Sequencing, Genetics, medicine, Humans, business.industry, Original Articles, medicine.disease, Ketotic hypoglycemia, Hypoglycemia, 030104 developmental biology, Endocrinology, next-generation sequencing, business, Asymptomatic carrier

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3ab32b34e290997f431eff4eecb45ff8Test
https://pubmed.ncbi.nlm.nih.gov/34117828Test

المؤلفون: Yurie Ogura, Hisato Suzuki, Takeshi Yoshida, Hiroshi Futagawa, Tomoko Uehara, Hiromi Hirata, Rikako Sanuki, Hiroshi Yoshihashi, Atsushi Yokoyama, Kohei Matsubara, Toshiyuki Takano-Shimizu, Kenjiro Kosaki, Toshiki Takenouchi, Mamiko Yamada

المصدر: American Journal of Medical Genetics. Part a

مصطلحات موضوعية: Male, Mutant, Mutation, Missense, Biology, medicine.disease_cause, Corpus Callosum, model organisms, Genetics, medicine, Missense mutation, Animals, Humans, Genetic Predisposition to Disease, Allele, Child, Zebrafish, Genetics (clinical), Loss function, Alleles, Mutation, loss‐of‐function, Gene Expression Regulation, Developmental, Infant, Original Articles, biology.organism_classification, Megalencephaly, NFIA, Disease Models, Animal, NFI Transcription Factors, corpus callosum anomaly, Amino Acid Substitution, Neurodevelopmental Disorders, Ectopic expression, Drosophila, Female, Original Article

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4a8f0261ae5f93375bc9cf536f0f55f4Test
https://pubmed.ncbi.nlm.nih.gov/33973697Test

المؤلفون: Timothy Lotze, Elizabeth Mizerik, Rajarshi Ghosh, Saunder Bernes, Diana Bharucha-Goebel, Rui Xiao, Lorraine Potocki, Carrie A. Mohila, Jaehyung Lim, Weimin Bi, Suzanne L. Woodbury, Molly E. Kuo, Kathleen Crosby, Carsten G. Bönnemann, William Hong, Anthony Antonellis, Rebecca Markovitz, Pranoot Tanpaiboon, Stephanie Manberg

المصدر: Am J Med Genet A

مصطلحات موضوعية: Glycine-tRNA Ligase, Male, medicine.medical_specialty, Copy number analysis, Mutation, Missense, SMN1, Spinal Muscular Atrophies of Childhood, Article, Muscular Atrophy, Spinal, Charcot-Marie-Tooth Disease, Genetics, Medicine, Missense mutation, Humans, Genetic Predisposition to Disease, Exome, Genetics (clinical), business.industry, Infant, Newborn, Infant, Spinal muscular atrophy, medicine.disease, SMA, Survival of Motor Neuron 1 Protein, Phenotype, Child, Preschool, Medical genetics, Allelic heterogeneity, Female, business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::06fcde406084e147598eebf170a36d02Test
https://pubmed.ncbi.nlm.nih.gov/32181591Test

المؤلفون: R. Frank Kooy, Julie Voet, Marije Meuwissen, Berten Ceulemans

المصدر: American journal of medical genetics : part A

مصطلحات موضوعية: Epilepsy, business.industry, Mutation, Missense, RNA-Binding Proteins, Haploinsufficiency, Syndrome, Bioinformatics, medicine.disease, Nervous System Malformations, Mutation (genetic algorithm), Genetics, Medicine, Neurodevelopmental delay, Missense mutation, Humans, Human medicine, business, Genetics (clinical)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e717f9d59e6f6a2debceedfdade00582Test
https://pubmed.ncbi.nlm.nih.gov/30903679Test

المؤلفون: F. Lucy Raymond, Nicole L. Bertsch, Pantelis Nicola, Eric W. Klee, Patrick R. Blackburn, Linda Hasadsri, Julia Rankin, Jill Clayton-Smith, Ddd Study, Pavel N. Pichurin, Kristen J. Rasmussen

المصدر: American journal of medical genetics. Part A. 179(4)

مصطلحات موضوعية: Male, Microcephaly, Adolescent, Mutation, Missense, Biology, X-inactivation, DEAD-box RNA Helicases, symbols.namesake, Sex Factors, Intellectual Disability, Exome Sequencing, Genetics, medicine, Missense mutation, Humans, Allele, Child, Genetics (clinical), Sanger sequencing, Syndrome, medicine.disease, Hypotonia, Phenotype, symbols, Female, medicine.symptom, Haploinsufficiency, DDX3X

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::14af2d4403b0d25e7f912e4cd9cca93eTest
https://pubmed.ncbi.nlm.nih.gov/30734472Test

المؤلفون: Eva-Lena Stattin, Marie-Louise Bondeson, Sanna Gudmundsson, Maria Wilbe, Adam Ameur, Josefin Johansson, Staffan Lundberg

المصدر: American journal of medical genetics. Part A. 176(6)

مصطلحات موضوعية: 0301 basic medicine, Male, medicine.medical_specialty, Mutation, Missense, Biology, medicine.disease_cause, 03 medical and health sciences, Consanguinity, Exome Sequencing, Genetics, medicine, Missense mutation, Hip Dislocation, Humans, Receptors, Cholinergic, Genetics (clinical), Exome sequencing, Skin, Arthrogryposis, Mutation, Arthrogryposis multiplex congenita, Infant, Metalloendopeptidases, Receptor Protein-Tyrosine Kinases, Congenital myasthenic syndrome, medicine.disease, Phenotype, Pedigree, 030104 developmental biology, Medical genetics, Female, medicine.symptom

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e8fac779d08170c6d4ebf764e235f67aTest
https://pubmed.ncbi.nlm.nih.gov/29663639Test

المؤلفون: Uwe Kornak, Karin Mayer, Eberhard Siebert, Denise Horn, Ulrich Seidel, Diana Mitter, Rami Abou Jamra, Imma Rost

المصدر: American journal of medical genetics. Part A. 173(9)

مصطلحات موضوعية: 0301 basic medicine, Male, Pathology, medicine.medical_specialty, Heterozygote, Developmental Disabilities, Mutation, Missense, Connective tissue, 030105 genetics & heredity, Biology, Compound heterozygosity, Bilateral frontoparietal polymicrogyria, Receptors, G-Protein-Coupled, White matter, 03 medical and health sciences, Genetics, medicine, Polymicrogyria, Missense mutation, Humans, Genetics (clinical), Brain, medicine.disease, Pedigree, Malformations of Cortical Development, medicine.anatomical_structure, GPR56, Collagen Type III, Phenotype, Ehlers–Danlos syndrome, Codon, Nonsense, Connective Tissue, Child, Preschool, Ehlers-Danlos Syndrome, Female

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e9002798e5b5b549992c4e37bbf29d1fTest
https://pubmed.ncbi.nlm.nih.gov/28742248Test

المؤلفون: Donna M. McDonald-McGinn, Miao He, Andrew C. Edmondson, Elaine H. Zackai, Xueli Li, Emma Bedoukian, Matthew A. Deardorff

المصدر: American journal of medical genetics. Part A. 173(10)

مصطلحات موضوعية: 0301 basic medicine, Adult, congenital, hereditary, and neonatal diseases and abnormalities, Glycosylation, Complex vertebral malformation, Mutation, Missense, 030105 genetics & heredity, Biology, Osteochondrodysplasias, 03 medical and health sciences, Camptodactyly, Genetics, medicine, Humans, Genetics (clinical), Exome sequencing, Arthrogryposis, Homozygote, Infant, Newborn, Anatomy, medicine.disease, Prognosis, 030104 developmental biology, Dysplasia, Nucleotide Transport Proteins, Nevus flammeus, Female, medicine.symptom, Hemivertebrae, Congenital disorder of glycosylation

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::412e7959454d37dba9e485f5dd8bdb5dTest
https://pubmed.ncbi.nlm.nih.gov/28777481Test

المؤلفون: Karthika Balasubramanian, Daniel H. Cohn, Bing Li, Deborah Krakow, Patric J. Ho, Michael J. Bamshad, Lisette Nevarez, Deborah A. Nickerson, Ralph S. Lachman, LaDonna Immken, Julia A. Ainsworth

المصدر: American journal of medical genetics. Part A. 173(9)

مصطلحات موضوعية: 0301 basic medicine, Adult, Male, Mutation, Missense, Locus (genetics), Genes, Recessive, Biology, SLC26A2, Osteochondrodysplasias, Article, Multiple epiphyseal dysplasia, 03 medical and health sciences, 0302 clinical medicine, Nucleotidases, Genetics, medicine, Missense mutation, Humans, Exome, Child, Genetics (clinical), Exome sequencing, Base Sequence, medicine.disease, Phenotype, Pedigree, Radiography, 030104 developmental biology, Dysplasia, 030220 oncology & carcinogenesis, Child, Preschool, biology.protein, Female, Candidate Gene Analysis

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::681bb08a55cf626772a9ce338e3f2610Test
https://pubmed.ncbi.nlm.nih.gov/28742282Test