المؤلفون: Christos Kasparis, Celia Moss, Robert J. Desnick, David D. Weaver, Hui Mei, Beom Hee Lee, Brenden Chen, Lisa Edelmann

المصدر: Journal of Human Genetics. 60:717-722

مصطلحات موضوعية: Male, Genetic counseling, Focal facial dermal dysplasia, Penetrance, Biology, Skin Diseases, Young Adult, Ectodermal Dysplasia, Chromosome Duplication, Gene duplication, Genetics, medicine, Humans, Copy-number variation, Genetics (clinical), Setleis syndrome, Genetic heterogeneity, Twist-Related Protein 1, Focal Facial Dermal Dysplasias, medicine.disease, Phenotype, Pedigree, Focal Dermal Hypoplasia, Repressor Proteins, Chromosomes, Human, Pair 1, Female

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::82f4d1e95288ea68bc72787fef717fedTest
https://doi.org/10.1038/jhg.2015.103Test

المؤلفون: Hiroshi Takahashi, Tomonari Shigemura, Kenji Ichiyanagi, Guillaume Velasco, Hiroyuki Sasaki, Hirohisa Nitta, Capucine Picard, Takeo Kubota, Tomoki Kosho, Claire Francastel, Motoko Unoki

المساهمون: Centre épigénétique et destin cellulaire (EDC (UMR_7216)), Centre National de la Recherche Scientifique (CNRS)-Université de Paris (UP)

المصدر: Journal of Human Genetics
Journal of Human Genetics, Nature Publishing Group, 2013, 58 (7), pp.455-460. ⟨10.1038/jhg.2013.56⟩

مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Adolescent, Primary Immunodeficiency Diseases, Recombinant Fusion Proteins, [SDV]Life Sciences [q-bio], Centromere, DNMT3B, Nonsense mutation, Black People, Biology, Compound heterozygosity, Cell Line, Mice, 03 medical and health sciences, Asian People, Molecular genetics, Genetics, medicine, Animals, Humans, Missense mutation, Cloning, Molecular, Gene, ComputingMilieux_MISCELLANEOUS, Genetics (clinical), 030304 developmental biology, Chromosome Aberrations, 0303 health sciences, Point mutation, 030305 genetics & heredity, Immunologic Deficiency Syndromes, Cytogenetics, Zinc Fingers, Genomics, DNA Methylation, Molecular biology, 3. Good health, Repressor Proteins, Chromosomes, Human, Pair 1, Child, Preschool, Face, Mutation, NIH 3T3 Cells, Female, Sequence Analysis, Chromosomes, Human, Pair 16

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cd6845026ea743f4c94a73a6cf325b13Test
https://doi.org/10.1038/jhg.2013.56Test

المؤلفون: Teresa M Neuhann, Malte Spielmann, Uwe Kornak, Stefan Mundlos, Björn Fischer-Zirnsak, Ricarda Flöttmann, Mohammed Al-Bughaili

المصدر: Journal of human genetics. 62(2)

مصطلحات موضوعية: 0301 basic medicine, Male, Azerbaijan, Mutation, Missense, Dwarfism, 030105 genetics & heredity, Biology, Gerodermia osteodysplastica, Short stature, Cutis Laxa, 03 medical and health sciences, symbols.namesake, Intellectual Disability, Intellectual disability, Genetics, medicine, Missense mutation, Humans, Abnormalities, Multiple, Allele, Genetics (clinical), Sanger sequencing, Facies, Skin Diseases, Genetic, medicine.disease, Chromosomes, Human, Pair 1, Child, Preschool, Mutation (genetic algorithm), symbols, medicine.symptom, Bone Diseases, Chromosome Deletion, Cutis laxa

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e25d5d6ba8f1a2afa4115206c806e002Test
https://pubmed.ncbi.nlm.nih.gov/27604556Test

المؤلفون: Swapan K Das, Steven C. Elbein, Sandra J. Hasstedt, Craig L. Hanis

المصدر: Journal of human genetics

مصطلحات موضوعية: Male, endocrine system diseases, Genetic Linkage, 030209 endocrinology & metabolism, Type 2 diabetes, Biology, Article, 03 medical and health sciences, 0302 clinical medicine, Waist–hip ratio, Pleiotropy, Risk Factors, Genetics, Genetic Pleiotropy, medicine, Humans, Obesity, Genetics (clinical), Abdominal obesity, 030304 developmental biology, 2. Zero hunger, 0303 health sciences, Waist-Hip Ratio, nutritional and metabolic diseases, Odds ratio, medicine.disease, Diabetes Mellitus, Type 2, Chromosomes, Human, Pair 1, Female, medicine.symptom, Lod Score, Body mass index

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::eefea1e36e51cf1096c9dbbba8b550c9Test
http://europepmc.org/articles/PMC3143214Test

المؤلفون: Kazuyuki Yanai, N. Takeda, S. Honjo, Masakuni Serizawa, Senji Shirasawa, Takehiko Sasazuki, Kazuki Yasuda, Yasushi Kaburagi, Y. Ochiai, N. Kuzuya, Norihiro Kato, Fumihiko Takeuchi, H. Kajio

المصدر: Journal of Human Genetics. 53:314-324

مصطلحات موضوعية: Candidate gene, Linkage disequilibrium, Nerve Tissue Proteins, Single-nucleotide polymorphism, Biology, Polymorphism, Single Nucleotide, Linkage Disequilibrium, Asian People, Japan, Polymorphism (computer science), Genetics, Genetic predisposition, Humans, SNP, Genetic Predisposition to Disease, Gene, Genetics (clinical), Chromosomes, Human, Pair 12, Membrane Transport Proteins, Odds ratio, Logistic Models, Diabetes Mellitus, Type 2, Chromosomes, Human, Pair 1, Chromosomes, Human, Pair 3, Lod Score, Carrier Proteins

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ad111a73dad44514d7fd1176c0cbb371Test
https://doi.org/10.1007/s10038-008-0254-6Test

المؤلفون: Aiysha Abid, S. Qasim Mehdi, Shagufta Khaliq, Muhammad Hussain Ismail, Khalid Anwar

المصدر: Journal of Human Genetics. 51:827-831

مصطلحات موضوعية: Adult, Male, Candidate gene, genetic structures, Genetic Linkage, Genes, Recessive, Locus (genetics), Consanguinity, Biology, Loss of heterozygosity, Genetic linkage, Retinitis pigmentosa, Genetics, medicine, Humans, Pakistan, Gene, Genetics (clinical), Dystrophy, medicine.disease, Pedigree, Chromosomes, Human, Pair 1, Female, sense organs, Retinitis Pigmentosa

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::20393372d26fe69474eb5b76ad6ca4a4Test
https://doi.org/10.1007/s10038-006-0028-yTest

المؤلفون: Takashi Ujiie, Kazuho Honda, Ken Tsuchiya, Fumihiro Akiyama, Yutaka Nagane, Takashi Takei, Kosaku Nitta, Kyoko Ito, Wataru Obara, Toshihiro Tanaka, Hiroshi Nihei, Yasushi Suzuki, Keiko Uchida, Yusuke Nakamura, Aritoshi Iida, Shiro Maeda, Tomoaki Fujioka, Yozo Ohnishi, Tatsuhiko Tsunoda, Fumitake Gejyo, Wako Yumura, Ryo Yamada, Ichiei Narita, Satoru Miyano

المصدر: Scopus-Elsevier
Europe PubMed Central

مصطلحات موضوعية: Adult, Male, Secretory component, Single-nucleotide polymorphism, Polymorphism, Single Nucleotide, Linkage Disequilibrium, Pathogenesis, Gene Frequency, Japan, Genetic variation, Genetics, Humans, SNP, Genetic Predisposition to Disease, Promoter Regions, Genetic, Genetics (clinical), biology, Receptors, Polymeric Immunoglobulin, Genetic Variation, Glomerulonephritis, IGA, Odds ratio, Middle Aged, Immunohistochemistry, Amino Acid Substitution, Chromosomes, Human, Pair 1, Case-Control Studies, Immunology, biology.protein, Female, Antibody, Polymeric immunoglobulin receptor

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3effc0a27fe32ef40f7597af04aac388Test
https://doi.org/10.1007/s10038-003-0027Test-1

المؤلفون: Shaohua Gu, Yumin Mao, Lu Huang, Ji Qian, Enpeng Zhao, Jinzhong Chen, Xie Yi, Chaoneng Ji, Jianliang Dai, Kang Ying

المصدر: Journal of Human Genetics. 48:164-169

مصطلحات موضوعية: DNA, Complementary, Two-hybrid screening, Molecular Sequence Data, Cell Cycle Proteins, Nerve Tissue Proteins, Biology, Exon, GTP-Binding Proteins, Two-Hybrid System Techniques, Complementary DNA, Genetics, Animals, Humans, Amino Acid Sequence, RNA, Messenger, Cloning, Molecular, Gene, Genetics (clinical), chemistry.chemical_classification, Base Sequence, Sequence Homology, Amino Acid, Gene Expression Profiling, Intracellular Signaling Peptides and Proteins, Proteins, RNA-Binding Proteins, Molecular biology, Stop codon, Neoplasm Proteins, Amino acid, chemistry, Chromosomes, Human, Pair 1, Organ Specificity, GenBank, Human genome, Carrier Proteins, Protein Binding

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::03b7a82878ceb3192422c391412ebc5dTest
https://doi.org/10.1007/s10038-002-0001-3Test

المؤلفون: Nobuhiko Okamoto, Osamu Shimokawa, Takeshi Okinaga, Naomichi Matsumoto, Yasuhisa Toribe, Tohru Nakajima, Kenji Kurosawa, Ikuya Nonaka

المصدر: Journal of Human Genetics. 47:0556-0559

مصطلحات موضوعية: medicine.medical_specialty, Muscle Hypotonia, Muscle Fibers, Skeletal, Cardiomyopathy, In situ hybridization, Biology, Proto-Oncogene Mas, Mice, Proto-Oncogene Proteins, Internal medicine, Genetics, medicine, Animals, Humans, Myopathy, Growth Disorders, In Situ Hybridization, Fluorescence, Genetics (clinical), Mice, Knockout, 1p36 deletion syndrome, Chromosome, Syndrome, Congenital fiber type disproportion, medicine.disease, Hypotonia, DNA-Binding Proteins, Disease Models, Animal, Endocrinology, Chromosomes, Human, Pair 1, Child, Preschool, Female, Chromosome Deletion, medicine.symptom, Myopathies, Structural, Congenital

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::729342e5b142782d593dfa7ecd9afb53Test
https://doi.org/10.1007/s100380200085Test

المؤلفون: Min Jiang, Yumin Mao, Xie Yi, Yushu Ma, Gentao Cao, Haipeng Cheng, Chaoneng Ji, Lingchen Guo, Xiaohua Ni, Shaohua Gu

المصدر: Journal of Human Genetics. 47:373-376

مصطلحات موضوعية: Molecular Sequence Data, CREB, Mice, chemistry.chemical_compound, Exon, Genetics, Animals, Humans, Cyclic adenosine monophosphate, Amino Acid Sequence, Cyclic AMP Response Element-Binding Protein, CAMP response element binding, Gene, Genetics (clinical), ATF3, biology, Intron, Chromosome Mapping, Nuclear Proteins, Hydrogen-Ion Concentration, Molecular biology, Basic-Leucine Zipper Transcription Factors, chemistry, Chromosomes, Human, Pair 1, Organ Specificity, biology.protein, CREB1, Sequence Alignment, Transcription Factors

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::06123cf9f96e23801750674b0e87d573Test
https://doi.org/10.1007/s100380200053Test