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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.62383Testمصطلحات 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 -
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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 -
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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 -
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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 -
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المؤلفون: Kalpana Miriyala, Joseph C. Hart
المصدر: American journal of medical genetics. Part A. 173(9)
مصطلحات موضوعية: 0301 basic medicine, Male, congenital, hereditary, and neonatal diseases and abnormalities, Pediatrics, medicine.medical_specialty, Neural Tube, Meningomyelocele, Genetic counseling, Mutation, Missense, 030105 genetics & heredity, 03 medical and health sciences, Spina bifida occulta, Genetics, Medicine, Humans, Waardenburg Syndrome, Waardenburg Syndrome Type 1, PAX3 Transcription Factor, Spinal Dysraphism, Genetics (clinical), business.industry, Spina bifida, Waardenburg syndrome, Neural tube, Infant, Newborn, medicine.disease, nervous system diseases, Hydrocephalus, Arnold-Chiari Malformation, 030104 developmental biology, medicine.anatomical_structure, Neurulation, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d26d832c2e6fb748359038e82aa29b52Test
https://pubmed.ncbi.nlm.nih.gov/28686331Test -
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المؤلفون: Alma Kuechler, Susan Sell, Karl Hackmann, Evelin Schröck, William B. Dobyns, Sabiha Merchant, Janine Altmüller, Sarah Collins, Nina Bögershausen, Galen N. Breningstall, Samantha A. Schrier Vergano, Wolfram Heinritz, Roger L. Ladda, Joann Bodurtha, Andrew E. Timms, Carissa Olds, Nataliya Di Donato, Andreas Rump
المصدر: American journal of medical genetics. Part A. 170(10)
مصطلحات موضوعية: 0301 basic medicine, Male, Pathology, medicine.medical_specialty, Heterozygote, Craniofacial abnormality, DNA Mutational Analysis, Medizin, Mutation, Missense, Lissencephaly, 030105 genetics & heredity, Craniofacial Abnormalities, 03 medical and health sciences, Genetics, medicine, Missense mutation, Humans, Abnormalities, Multiple, Exome, Genetics (clinical), Exome sequencing, Genetic Association Studies, ACTG1, business.industry, Pachygyria, Brain, Facies, High-Throughput Nucleotide Sequencing, Infant, medicine.disease, Magnetic Resonance Imaging, Actins, 030104 developmental biology, Phenotype, Child, Preschool, Cohort, Female, business, Biomarkers
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6282c444c8438d536bc7259b264c9acaTest
https://pubmed.ncbi.nlm.nih.gov/27240540Test -
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المؤلفون: James T. Bennett, Deborah L. Stabley, William B. Dobyns, Laura A. Baker, Katia Sol-Church, Nina Powell-Hamilton, Andrew E. Timms, Karen W. Gripp, Kimberly A. Aldinger, Jessica Tusi
المصدر: American journal of medical genetics. Part A. 170(9)
مصطلحات موضوعية: 0301 basic medicine, MAPK/ERK pathway, Diagnostic Imaging, Male, medicine.medical_specialty, Mutation, Missense, Biology, RASopathy, medicine.disease_cause, Article, 03 medical and health sciences, Young Adult, Internal medicine, Protein Phosphatase 1, Genetics, medicine, Loose Anagen Hair Syndrome, Missense mutation, Humans, Exome, Genetic Testing, Child, Genetics (clinical), Genetic Association Studies, Mutation, Kinase, Noonan Syndrome, Macrocephaly, Brain, Facies, High-Throughput Nucleotide Sequencing, medicine.disease, Phenotype, 030104 developmental biology, Endocrinology, Child, Preschool, ras Proteins, Noonan syndrome, Female, medicine.symptom, Dandy-Walker Syndrome
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b061a6b79178c3876e8540f0ec2e517fTest
https://pubmed.ncbi.nlm.nih.gov/27264673Test -
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المؤلفون: Lukasz Kuszel, Joanna Walczak-Sztulpa, Beata Kocyła-Karczmarewicz, Agata Sobierajewicz, Anna Wnuk, Ryszard Grenda, Anna Wawrocka, Jan Zawadzki, Anna Swiader-Lesniak, Anna Latos-Bielenska, Krystyna H. Chrzanowska
المصدر: American journal of medical genetics. Part A. 173(5)
مصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, Pathology, Dolichocephaly, Mutation, Missense, Telecanthus, 030105 genetics & heredity, Biology, Compound heterozygosity, Kidney, Short stature, Bone and Bones, 03 medical and health sciences, Craniosynostoses, Nephronophthisis, Ectodermal Dysplasia, Internal medicine, Genetics, medicine, Humans, Hedgehog Proteins, Cilia, Child, Genetics (clinical), Alleles, Siblings, Intracellular Signaling Peptides and Proteins, Proteins, medicine.disease, Sensenbrenner syndrome, Ciliopathy, Cytoskeletal Proteins, Endocrinology, Codon, Nonsense, Female, Poland, medicine.symptom, Cranioectodermal Dysplasia
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2bfdef9bea51cc2e5016bd7811b904f3Test
https://pubmed.ncbi.nlm.nih.gov/28332779Test -
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المؤلفون: Sheila Unger, Bénédicte Gérard, Andrea Superti-Furga, Jean-Louis Mandel, Francesca Mattioli, Amélie Piton
المصدر: American journal of medical genetics. Part A. 170(6)
مصطلحات موضوعية: 0301 basic medicine, Male, medicine.medical_specialty, Pediatrics, Hearing loss, Mutation, Missense, Nerve Tissue Proteins, 030105 genetics & heredity, 03 medical and health sciences, Internal medicine, Intellectual Disability, Intellectual disability, Genetics, medicine, Congenital Hypothyroidism, Missense mutation, Humans, Abnormalities, Multiple, Ear Diseases, Genetics (clinical), Genetic Association Studies, Comparative Genomic Hybridization, business.industry, Macrocephaly, Calcinosis, Facies, Infant, medicine.disease, Primrose syndrome, Hypotonia, Hypoplasia, Congenital hypothyroidism, Pedigree, Muscular Atrophy, Endocrinology, Phenotype, Mutation, medicine.symptom, business, Biomarkers, Transcription Factors
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f3a9f7855183657f086d63adbd3b307cTest
https://pubmed.ncbi.nlm.nih.gov/27061120Test -
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المؤلفون: Andreas Zankl, Garry D T Inglis, Michael F. Buckley, George Elakis, Glenn Gardener, Rachel Susman, Tony Roscioli
المصدر: American Journal of Medical Genetics. Part A, 146A, 2, pp. 212-8
American Journal of Medical Genetics. Part A, 146A, 212-8مصطلحات موضوعية: Male, medicine.medical_specialty, Pediatrics, Thanatophoric dysplasia, Developmental Disabilities, Mutation, Missense, Dwarfism, Prenatal diagnosis, Ultrasonography, Prenatal, Achondroplasia, Fetus, Methionine, Pregnancy, Internal medicine, Genetics, medicine, Humans, Receptor, Fibroblast Growth Factor, Type 3, Missense mutation, Acanthosis Nigricans, SADDAN, Acanthosis nigricans, Genetics (clinical), business.industry, Lysine, Infant, Newborn, medicine.disease, Developmental disorder, Endocrinology, Amino Acid Substitution, Genetic defects of metabolism [UMCN 5.1], Female, business, Functional Neurogenomics [DCN 2], Immunity, infection and tissue repair [NCMLS 1]
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f4700e1bc289a67dd2faad7142f29754Test
https://hdl.handle.net/2066/71384Test