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71
المؤلفون: Robert McWilliam, Mark Walker, Jane Fenton-May, Julia Rankin, Manfred Wehnert, Nguyen Thuy Duong, Michaela Auer-Grumbach, Sian Ellard, Kevin Colclough, Katharine Owen, Philip Jardine, Dragana Josifova, Cheryl Longman, Judith Hudson, Andrew T. Hattersley, Warwick Bagg
المصدر: American journal of medical genetics. Part A. (12)
مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Pathology, Adolescent, Mutation, Missense, Laminopathy, Penetrance, Gene mutation, Biology, Arginine, LMNA, Internal medicine, Genetics, medicine, Missense mutation, Humans, Cysteine, Emery–Dreifuss muscular dystrophy, Child, Genetics (clinical), Genetic Diseases, Inborn, Middle Aged, medicine.disease, Familial partial lipodystrophy, Lamin Type A, Endocrinology, Phenotype, Amino Acid Substitution, Female, Restrictive dermopathy
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::189cea3f234f6376b302819b0b7e4cc6Test
https://pubmed.ncbi.nlm.nih.gov/18478590Test -
72
المؤلفون: Ignacio del Castillo, Matías Morín, Teresa Rivera, M A Moreno-Pelayo, Manuela Villamar, Antonio Viñuela, Felipe Moreno
المصدر: American journal of medical genetics. Part A. (8)
مصطلحات موضوعية: Genetics, Male, Waardenburg syndrome, SOXE Transcription Factors, Hearing Loss, Sensorineural, SOX10, High Mobility Group Proteins, Mutation, Missense, Infant, Biology, medicine.disease, DNA-Binding Proteins, Spain, Mutation (genetic algorithm), medicine, Missense mutation, Humans, Waardenburg Syndrome, Transcription factor, Gene, Genetics (clinical), Pigmentation disorder, Transcription Factors
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8d14f585b863e7924080bbf873a14681Test
https://pubmed.ncbi.nlm.nih.gov/18348274Test -
73
المؤلفون: D. Burch, Julia Turner, M. Anne Spence, Pamela Flodman, J. Bronwyn Bateman, Fernando Barria von-Bischhoffshausen, Sandra E. Brown, Linda Nguyen, L. Richter
المصدر: American journal of medical genetics. Part A. (7)
مصطلحات موضوعية: Adult, Male, Candidate gene, Chromosomes, Human, Pair 21, Genetic Linkage, Mutation, Missense, Locus (genetics), Biology, Cataract, Cornea, Exon, Corneal Opacity, Cataracts, Genetic linkage, Crystallin, Genetics, medicine, Humans, Child, Genetics (clinical), DNA Primers, Genes, Dominant, Base Sequence, medicine.disease, Crystallins, eye diseases, Microcornea, Pedigree, Phenotype, Genetic marker, Female, sense organs
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7e5a5e92a6a736318c09cb5d0382ce3fTest
https://pubmed.ncbi.nlm.nih.gov/18302245Test -
74Acanthosis nigricans in a child with mild osteochondrodysplasia and K650Q mutation in the FGFR3 gene
المؤلفون: Geert Mortier, Jean-Marie Naeyaert, Lieve Nuytinck, Jo Lambert, Jules G. Leroy
المصدر: American journal of medical genetics. Part A. (24)
مصطلحات موضوعية: medicine.medical_specialty, Hyperkeratosis, Mutation, Missense, Hypochondroplasia, Osteochondrodysplasias, Short stature, Internal medicine, Genetics, medicine, Missense mutation, Humans, Point Mutation, Receptor, Fibroblast Growth Factor, Type 3, Acanthosis Nigricans, Child, Acanthosis nigricans, Genetics (clinical), Pigmentation disorder, Skin, business.industry, medicine.disease, Osteochondrodysplasia, Dyskeratosis, Endocrinology, Phenotype, Mutation, Female, medicine.symptom, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ec0c9313fc97f60487dc4042183865ceTest
https://pubmed.ncbi.nlm.nih.gov/18000903Test -
75
المؤلفون: Ruhama Neis, Ronald Roepman, István Magyar, Eyal Banin, Dror Sharon, Wolfgang Berger, Liliana Mizrahi-Meissonnier, Thomas Rosenberg, Shira Silverstein, Dvorah Abeliovich
المصدر: American journal of medical genetics. Part A. (11)
مصطلحات موضوعية: Adult, Male, Candidate gene, genetic structures, Adolescent, Fundus Oculi, DNA Mutational Analysis, Mutation, Missense, Genes, Recessive, Biology, X Chromosome Inactivation, Retinitis pigmentosa, Genetics, medicine, Inheritance Patterns, Missense mutation, Humans, Fluorescein Angiography, Child, Eye Proteins, Genetics (clinical), X chromosome, Aged, Genes, Dominant, Aged, 80 and over, Chromosomes, Human, X, Haplotype, Genetic Diseases, X-Linked, Middle Aged, medicine.disease, eye diseases, Pedigree, Child, Preschool, Mutation (genetic algorithm), Mutation testing, Female, Retinitis Pigmentosa
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::99debf59fe07cab2ef432dac999dfb17Test
https://pubmed.ncbi.nlm.nih.gov/17480003Test -
76
المؤلفون: Mariana Hasan, Esther Leshinsky-Silver, Yuval Weigl, Nathan Watemberg, Chana Vinkler, Michael Davidovich, Tally Lerman-Sagie, Eva Gak, Dorit Lev
المصدر: American journal of medical genetics. Part A. (9)
مصطلحات موضوعية: Male, Pediatrics, medicine.medical_specialty, DNA Mutational Analysis, Molecular Sequence Data, Mutation, Missense, Nerve Tissue Proteins, Blindness, Central nervous system disease, Epilepsy, Genetics, Medicine, Missense mutation, Humans, Eye Proteins, Genetics (clinical), Base Sequence, business.industry, Infant, West Syndrome, medicine.disease, Hypsarrhythmia, Mutation (genetic algorithm), Norrie disease, medicine.symptom, Nervous System Diseases, business, Spasms, Infantile, Retinopathy
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b6c86c2249954462aa336f7483bdbd1cTest
https://pubmed.ncbi.nlm.nih.gov/17334993Test -
77
المؤلفون: Michael J. Bamshad, Hans van Bokhoven, Ben C.J. Hamel, Lynn B. Jorde, Rick A. Martin, Joep H. A. M. Tuerlings, Virginia K. Proud, Harold Chen, Reha M. Toydemir, Constantine A. Stratakis
المصدر: American journal of medical genetics. Part A. 140(22)
مصطلحات موضوعية: Male, Models, Molecular, medicine.medical_specialty, Mutation, Missense, Pedigree chart, Trismus, Camptodactyly, Internal medicine, Genetics, medicine, Humans, Amino Acid Sequence, Carney complex, Genetics (clinical), Conserved Sequence, Genes, Dominant, Arthrogryposis, Base Sequence, Myosin Heavy Chains, Sequence Homology, Amino Acid, business.industry, Haplotype, Trismus pseudocamptodactyly syndrome, DNA, Syndrome, medicine.disease, Pedigree, Endocrinology, Amino Acid Substitution, Haplotypes, Mutation (genetic algorithm), Female, medicine.symptom, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2c3271b4cb995ae957fd1b126dff8643Test
https://pubmed.ncbi.nlm.nih.gov/17041932Test -
78
المؤلفون: Robert D. Blank, Nader Ghebranious, Ingrid Glurich, Thomas Faciszewski, Sanjay K. Shukla, Cathleen L. Raggio, F. Stig Jacobsen, Kristen Rasmussen, Cory E. Reynolds, James K. Burmester, Sajid Merchant, Philip F. Giampietro, Elizabeth McPherson, Richard M. Pauli
المصدر: American journal of medical genetics. Part A. 140(22)
مصطلحات موضوعية: Adult, Male, Candidate gene, Heterozygote, Mutation, Missense, Locus (genetics), Biology, Asymptomatic, Genetic determinism, Gene Frequency, Genetics, medicine, Missense mutation, Animals, Humans, Allele, Child, Allele frequency, Genetics (clinical), Alleles, DNA Primers, Base Sequence, Case-control study, Intracellular Signaling Peptides and Proteins, Membrane Proteins, Spine, Amino Acid Substitution, Scoliosis, Case-Control Studies, Female, medicine.symptom, Signal Transduction
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ac7cd29a0f1fdb9d15f78e0d5a90ad7fTest
https://pubmed.ncbi.nlm.nih.gov/17041936Test -
79
المؤلفون: Tanya N. Nelson, Helene Bruyere, Sylvie Langlois, Frederick K. Kozak, C. Huculak
المصدر: American journal of medical genetics. Part A. 140(22)
مصطلحات موضوعية: Male, Hearing loss, Hearing Loss, Sensorineural, Nonsense mutation, Mutation, Missense, Connexin, Genes, Recessive, Connexins, White People, Cohort Studies, Asian People, Gene Frequency, otorhinolaryngologic diseases, Genetics, medicine, Humans, Allele, Genetics (clinical), Alleles, DNA Primers, Base Sequence, business.industry, Genetic heterogeneity, Homozygote, Audiogram, medicine.disease, Connexin 26, Phenotype, Cohort, Sensorineural hearing loss, Female, medicine.symptom, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a58ebc5f646e6bccb21ac790c593e148Test
https://pubmed.ncbi.nlm.nih.gov/17036313Test -
80
المصدر: American journal of medical genetics. Part A. 140(23)
مصطلحات موضوعية: Male, Offspring, Genetic counseling, DNA Mutational Analysis, Mutation, Missense, Nerve Tissue Proteins, Gene mutation, Biology, medicine.disease_cause, Frameshift mutation, Holoprosencephaly, Genetics, medicine, Missense mutation, Humans, Eye Proteins, Frameshift Mutation, Genetics (clinical), Homeodomain Proteins, Mutation, Brain, Infant, medicine.disease, Phenotype, Magnetic Resonance Imaging, Radiography, Female, sense organs, Brazil
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::27cb8b9c62627c3b4fda4af9e6f3a097Test
https://pubmed.ncbi.nlm.nih.gov/17001667Test