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

المؤلفون: Riddhi Bhavsar, Gyan Ranjan, Jayesh Sheth, Frenny Sheth, Krati Shah

المصدر: American journal of medical genetics. Part A. 173(4)

مصطلحات موضوعية: 0301 basic medicine, Proband, Male, Models, Molecular, Heterozygote, Mutism, Population, Mutation, Missense, Gene Expression, Biology, medicine.disease_cause, Protein Structure, Secondary, 03 medical and health sciences, Exon, Young Adult, 0302 clinical medicine, Intellectual Disability, Intellectual disability, Genetics, medicine, Missense mutation, Humans, Exome, Family, education, Genetics (clinical), Exome sequencing, education.field_of_study, Mutation, Base Sequence, Homozygote, High-Throughput Nucleotide Sequencing, Proteins, medicine.disease, Pedigree, 030104 developmental biology, Neuron differentiation, Female, 030217 neurology & neurosurgery, Polymorphism, Restriction Fragment Length

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::091cc163a8ed9802cccedb77c407c0b1Test
https://pubmed.ncbi.nlm.nih.gov/28181389Test

المؤلفون: Birgit Sikkema-Raddatz, Jan D. H. Jongbloed, Rob B. van der Luijt, Eva Klopocki, Patrick Rump, Stefan Mundlos

المساهمون: Cardiovascular Centre (CVC)

المصدر: American Journal of Medical Genetics. Part A, 155A(10), 2566-2570. Wiley

مصطلحات موضوعية: musculoskeletal diseases, medicine.medical_specialty, albright hereditary osteodystrophy, Adolescent, media_common.quotation_subject, Molecular Sequence Data, Mutation, Missense, Wrist, Biology, LERI-WEILL DYSCHONDROSTEOSIS, STIMULATORY G-PROTEIN, Exon, GNAS, Internal medicine, Genetics, medicine, GNAS complex locus, Chromogranins, GTP-Binding Protein alpha Subunits, Gs, Humans, Abnormalities, Multiple, Girl, Léri–Weill dyschondrosteosis, Genetics (clinical), media_common, Subluxation, Base Sequence, ABNORMALITIES, IA, madelung deformity, DELETION, Ulna, Brachydactyly, fungi, brachydactyly type E, Anatomy, Sequence Analysis, DNA, medicine.disease, Radiography, medicine.anatomical_structure, Endocrinology, biology.protein, Female, SHOX

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::05bf0ec72d0ce2679ba89893df3a6954Test
https://doi.org/10.1002/ajmg.a.34218Test

المؤلفون: Beyhan, Tüysüz, Adife Gülhan, Ercan-Sencicek, Nur, Canpolat, Asuman, Koparır, Saliha, Yılmaz, Işın, Kılıçaslan, Burcu, Gülez, Kaya, Bilguvar, Murat, Günel

المصدر: American journal of medical genetics. Part A. (5)

مصطلحات موضوعية: Male, Adolescent, Base Sequence, Glomerulosclerosis, Focal Segmental, Homozygote, Mutation, Missense, Transferases (Other Substituted Phosphate Groups), Kidney, Pedigree, Mucolipidoses, Humans, Exome, Female, Child

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::abcfff112b772427d723d3dbcd05b193Test
https://pubmed.ncbi.nlm.nih.gov/26749367Test

المؤلفون: W Baerts, A. J. van Essen, M J L Torringa, Joke B. G. M. Verheij, Patrick Rump, J J P Gille, J. P.J. van Gestel, Tom G.W. Letteboer

المساهمون: Human genetics

المصدر: Rump, P, Letteboer, T G W, Gille, J J P, Torringa, M J L, Baerts, W, van Gestel, J P J, Verheij, J B G M & van Essen, A J 2006, ' Severe complications in a child with achondroplasia and two FGFR3 mutations on the same allele ', American Journal of Medical Genetics Part A, vol. 140, no. 3, pp. 284-90 . https://doi.org/10.1002/ajmg.a.31084Test
American Journal of Medical Genetics Part A, 140(3), 284-90. Wiley-Liss Inc.
American Journal of Medical Genetics. Part A, 140A(3), 284-290. Wiley

مصطلحات موضوعية: Male, musculoskeletal diseases, medicine.medical_specialty, congenital, hereditary, and neonatal diseases and abnormalities, Thanatophoric dysplasia, complications, DISORDERS, DNA Mutational Analysis, Mutation, Missense, THANATOPHORIC DYSPLASIA, Dwarfism, HOMOZYGOUS ACHONDROPLASIA, skeletal dysplasia, medicine.disease_cause, Compound heterozygosity, CRANIOSYNOSTOSIS, GROWTH-FACTOR RECEPTOR-3, ACTIVATION, Fatal Outcome, HYPOCHONDROPLASIA COMPLEX, Internal medicine, respiratory distress, COMPOUND HETEROZYGOSITY, achondroplasia, Genetics, medicine, Missense mutation, Humans, Receptor, Fibroblast Growth Factor, Type 3, Achondroplasia, Allele, Genetics (clinical), Alleles, Mutation, Respiratory Distress Syndrome, Newborn, Base Sequence, business.industry, DWARFISM, Infant, Newborn, Infant, medicine.disease, FAMILY, Endocrinology, Fibroblast growth factor receptor, FGFR3, business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::eb594acab6eeaf7a876ab354b2a564a7Test
https://doi.org/10.1002/ajmg.a.31084Test

المؤلفون: Adam Diehl, Meral Gunay-Aygun, Denise A.S. Batista, Weiyi Mu

المصدر: American journal of medical genetics. Part A. 167(7)

مصطلحات موضوعية: Chromosomes, Human, Pair 22, Nonsense mutation, Molecular Sequence Data, Mutation, Missense, Chromosome Disorders, Ulna, Biology, urologic and male genital diseases, medicine.disease_cause, Polymorphism, Single Nucleotide, Segmental Duplications, Genomic, SALL4, Gene duplication, Chromosome Duplication, Genetics, medicine, Missense mutation, Humans, Abnormalities, Multiple, Genetics (clinical), Mutation, Base Sequence, Chromosome, Anatomy, Sequence Analysis, DNA, Hand Deformities, medicine.disease, Hypoplasia, Radius, Synostosis, Thumb, Agenesis, human activities, Transcription Factors

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0d83d060c8531a34a7fd28cb9a1ad256Test
https://pubmed.ncbi.nlm.nih.gov/25823593Test

المؤلفون: Julie S. Cohen, Hsiao-Mei Lu, Kelly D. Farwell, Wenqi Zeng, Hong Lu, Ali Fatemi, Siddharth Srivastava, Elizabeth C. Chao

المصدر: American journal of medical genetics. Part A. 167(6)

مصطلحات موضوعية: Adult, Male, TRNA modification, Heterozygote, Protein subunit, Molecular Sequence Data, Mutation, Missense, Gene Expression, Compound heterozygosity, Intellectual Disability, Intellectual disability, Genetics, medicine, Missense mutation, Humans, Exome, Amino Acid Sequence, Genetics (clinical), Exome sequencing, biology, Base Sequence, Cerebral Palsy, Siblings, Intracellular Signaling Peptides and Proteins, High-Throughput Nucleotide Sequencing, medicine.disease, Phenotype, Pedigree, Histone, biology.protein, Self-Injurious Behavior

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::26a5f6f96f623fa7c429eb635d2fc0b5Test
https://pubmed.ncbi.nlm.nih.gov/25847581Test

المؤلفون: Ignacio Montero-de-Espinosa, José M. Millán, Guillermo Antiñolo, Cristina Méndez-Vidal, Joaquín Dopazo, Nereida Bravo-Gil, Salud Borrego, María González del Pozo

المصدر: American journal of medical genetics. Part A. 167(7)

مصطلحات موضوعية: Retinal degeneration, Genetics, Cyclic Nucleotide Phosphodiesterases, Type 6, Extracellular Matrix Proteins, Base Sequence, Usher syndrome, Mutant, Molecular Sequence Data, Mutation, Missense, Sequence Analysis, DNA, Biology, medicine.disease, Pedigree, Exon, PDE6B, Spain, Mutation (genetic algorithm), Retinitis pigmentosa, medicine, Humans, Gene, Genetics (clinical), Retinitis Pigmentosa, Gene Library

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::22ba7ebfdab5aefe1f6dd9249092350fTest
https://pubmed.ncbi.nlm.nih.gov/25823529Test

المؤلفون: Mohammad M. Al-Qattan, Muhammed I. Al-Motairi, Mohammed Al Balwi

المصدر: American journal of medical genetics. Part A. 167(7)

مصطلحات موضوعية: Genotype, Nonsense mutation, Molecular Sequence Data, Mutation, Missense, Saudi Arabia, GDF5, Biology, medicine.disease_cause, Frameshift mutation, Fingers, Growth Differentiation Factor 5, Genetics, medicine, Missense mutation, Humans, Gene, Genetics (clinical), Mutation, Base Sequence, Brachydactyly, Infant, Sequence Analysis, DNA, medicine.disease, Radiography, Brachydactyly type C, Phenotype

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e232348dbb931f1eca075f14b453a605Test
https://pubmed.ncbi.nlm.nih.gov/25820810Test

المؤلفون: Pranoot Tanpaiboon, Hülya Kayserili, Anusha Uttarilli, Napaporn Tananuvat, Ashwin Dalal, Yeliz Güven, Piranit Nik Kantaputra, Warissara Kantaputra, Mehmet Balci

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

مصطلحات موضوعية: Arylsulfatase B, Adult, Male, Protein Folding, Adolescent, Turkey, N-Acetylgalactosamine-4-Sulfatase, Mucopolysaccharidosis, Mucopolysaccharidosis type VI, DNA Mutational Analysis, Mutation, Missense, India, Biology, Frameshift mutation, Young Adult, Genetics, Lysosomal storage disease, medicine, Missense mutation, Humans, Abnormalities, Multiple, Proteostasis Deficiencies, Child, Frameshift Mutation, Genetics (clinical), Mucopolysaccharidosis VI, Base Sequence, Haplotype, Chromosome Mapping, medicine.disease, Maroteaux–Lamy syndrome, Haplotypes, Iraq, Female, Microsatellite Repeats

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ec221089b95ca10b5060a7e76eb88f6aTest
https://pubmed.ncbi.nlm.nih.gov/24677745Test