المؤلفون: He, Karen Y, Li, Xiaoyin, Kelly, Tanika N, Liang, Jingjing, Cade, Brian E, Assimes, Themistocles L, Becker, Lewis C, Beitelshees, Amber L, Bress, Adam P, Chang, Yen-Pei Christy, Chen, Yii-Der Ida, de Vries, Paul S, Fox, Ervin R, Franceschini, Nora, Furniss, Anna, Gao, Yan, Guo, Xiuqing, Haessler, Jeffrey, Hwang, Shih-Jen, Irvin, Marguerite Ryan, Kalyani, Rita R, Liu, Ching-Ti, Liu, Chunyu, Martin, Lisa Warsinger, Montasser, May E, Muntner, Paul M, Mwasongwe, Stanford, Palmas, Walter, Reiner, Alex P, Shimbo, Daichi, Smith, Jennifer A, Snively, Beverly M, Yanek, Lisa R, Boerwinkle, Eric, Correa, Adolfo, Cupples, L Adrienne, He, Jiang, Kardia, Sharon LR, Kooperberg, Charles, Mathias, Rasika A, Mitchell, Braxton D, Psaty, Bruce M, Vasan, Ramachandran S, Rao, DC, Rich, Stephen S, Rotter, Jerome I, Wilson, James G, Chakravarti, Aravinda, Morrison, Alanna C, Levy, Daniel, Arnett, Donna K, Redline, Susan, Zhu, Xiaofeng

المصدر: Human Genetics. 138(2)

مصطلحات موضوعية: Biological Sciences, Genetics, Biotechnology, Heart Disease, Human Genome, Cardiovascular, Aetiology, 2.1 Biological and endogenous factors, Good Health and Well Being, Alternative Splicing, Blood Pressure, Chromosomes, Human, Pair 16, Exome, Female, Follow-Up Studies, Genetic Linkage, Genetic Variation, Genome, Human, Genome-Wide Association Study, High-Throughput Nucleotide Sequencing, Humans, Male, RNA Splicing Factors, Recombinases, NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium, TOPMed Blood Pressure Working Group, Complementary and Alternative Medicine, Paediatrics and Reproductive Medicine, Genetics & Heredity, Reproductive medicine

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/2g02g3gsTest

المؤلفون: David Francis, Yves Sznajer, Lieve Vanwalleghem, Jennifer Kussmann, David A. Bateman, Gael E. Phillips, Scott A. Anderson, Elizabeth K. Fiorino, Przemyslaw Szafranski, Kamilla Schlade-Bartusiak, Neil J. Sebire, Pablo Lapunzina, Maya Chopra, Urvashi Surti, Isabelle Maystadt, Oliver Quarrell, Partha Sen, Jill Slamon, Avinash V. Dharmadhikari, Philippe Moerman, Liesbeth Spruijt, Dick Tibboel, Susan Arbuckle, Glenda Hendson, Jennifer Schuette, Nicole de Leeuw, Melissa Lees, Namasivayam Ambalavanan, Annelies de Klein, Svetlana A. Yatsenko, Joel Reiter, Joseph T. Shieh, Sandra Janssens, Gregory Peters, Jessica Sebastian, David R. Kelly, Eitan Kerem, Janet Lioy, Martina Owens, Gary Tsz Kin Mok, Carlos A. Bacino, Amy S. Lay, Shalini N. Jhangiani, Suneeta Madan-Khetarpal, Björn Menten, Elizabeth Roeder, Kadir C. Akdemir, Denise A. Hayes, Laurie A. Steiner, Taryn C. Rosenthal, Richard Sayers, Fernando Santos-Simarro, Ashley Wilson, Joyce E. Fox, Yoyo W. Y. Chu, Richard Fisher, Rebecca O. Littlejohn, Daynna J. Wolff, Wai Lap Wong, Timothy Thiruchelvam, Kristin Scheible, Zoe Mead, Eileen McKay, M. Anwar Iqbal, Erwin Brosens, Melinda H. Markham, Julián Nevado, Anne Loccufier, Rosanna G. Abellar, Tomasz Gambin, Charles Shaw-Smith, Alison Yeung, Pawel Stankiewicz, Nihal Godiwala, Elfride De Baere, Ilse Feenstra, Diane J. Payton, Girvan Malcolm, María Palomares, Morris Edelman, Claire Langston, Thomas S. DeNapoli, Margaret L. McKinnon, Carol L. Wagner, Brian H.Y. Chung, James R. Lupski, Dawn English, Alison Male, Edwina J. Popek, Frances Elmslie, Jasneek Chawla, Sara Jane Hamilton, Jason Pinner

المساهمون: Clinical Genetics, Pediatric Surgery

المصدر: Human Genetics, 135, 5, pp. 569-86
Human Genetics, 135(5), 569-586. Springer-Verlag
Human Genetics, 135, 569-86
Repositorio Institucional de la Consejería de Sanidad de la Comunidad de Madrid
Consejería de Sanidad de la Comunidad de Madrid

مصطلحات موضوعية: 0301 basic medicine, Alveolar capillary dysplasia, Male, Locus (genetics), Biology, Persistent Fetal Circulation Syndrome, Article, 03 medical and health sciences, symbols.namesake, Genomic Imprinting, 0302 clinical medicine, Chromosome 16, Genetics, medicine, Humans, Copy-number variation, Genetics (clinical), Exome sequencing, Sequence Deletion, Sanger sequencing, Comparative Genomic Hybridization, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], Genome, Human, Infant, Newborn, High-Throughput Nucleotide Sequencing, Forkhead Transcription Factors, medicine.disease, Molecular biology, Uniparental disomy, Pedigree, Pulmonary Alveoli, 030104 developmental biology, Pulmonary Veins, 030220 oncology & carcinogenesis, symbols, Female, Genes, Lethal, Genomic imprinting, Chromosomes, Human, Pair 16, Rare cancers Radboud Institute for Health Sciences [Radboudumc 9]

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::940199cff9fdefb150d9d6b25e41e0daTest
https://doi.org/10.1007/s00439-016-1655-9Test

المؤلفون: Hammond, P, Mckee, S, Suttie, M, Allanson, J, Cobben, Jm, Maas, Sm, Quarrell, O, Smith, Ac, Lewis, S, Tassabehji, M, Sisodiya, S, Mattina, Teresa, Hennekam, R.

المساهمون: ANS - Amsterdam Neuroscience, Other Research, Human Genetics, Paediatric Genetics, APH - Amsterdam Public Health

المصدر: Human Genetics
Human genetics, 133(9), 1117-1125. Springer Verlag

مصطلحات موضوعية: Adult, Male, Adolescent, DNA Copy Number Variations, Gene Dosage, Black People, Chromosome Disorders, White People, Imaging, Three-Dimensional, Gene Duplication, Genetics, Humans, Genetics(clinical), Child, Original Investigation, Sequence Deletion, Chromosomes, Human, Pair 11, Phenotype, Case-Control Studies, Child, Preschool, Face, Female, Chromosomes, Human, Pair 4, Chromosomes, Human, Pair 16, Chromosomes, Human, Pair 7, Chromosomes, Human, Pair 17

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::13af63e0823f59ba772454755b139b34Test
http://europepmc.org/articles/PMC4148161Test

المؤلفون: Oliver Bartsch, Sarah Dyack, Luitgard M. Neumann, Vera M. Kalscheuer, Sasan Rasi, Marianne Volleth, Alicia Delicado, Thomas Haaf, Eva Seemanova

المصدر: Human Genetics. 120:179-186

مصطلحات موضوعية: Male, Biology, Contiguous gene syndrome, Genetics, medicine, Deoxyribonuclease I, Humans, Gene, In Situ Hybridization, Fluorescence, Genetics (clinical), Rubinstein-Taybi Syndrome, Rubinstein–Taybi syndrome, medicine.diagnostic_test, Hybridization probe, Infant, Chromosome, medicine.disease, CREB-Binding Protein, Human genetics, Failure to thrive, Female, Chromosome Deletion, medicine.symptom, Chromosomes, Human, Pair 16, Gene Deletion, Fluorescence in situ hybridization

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::af44aa81add0230c89339fecb9a76cc0Test
https://doi.org/10.1007/s00439-006-0215-0Test

المؤلفون: Rana Amjad, Muhammad Hashim Raza, Dennis Drayna, Sheikh Riazuddin

المصدر: Human Genetics. 131:311-313

مصطلحات موضوعية: Male, Genetics, Stuttering, Genetic Linkage, Single-nucleotide polymorphism, Locus (genetics), Consanguinity, Biology, Article, Pedigree, Genetic linkage, medicine, Humans, Microsatellite, SNP, Female, medicine.symptom, Genotyping, Chromosomes, Human, Pair 16, Genetics (clinical)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7e948d5a4379b491f5e40f927ad05ae4Test
https://doi.org/10.1007/s00439-011-1134-2Test

المؤلفون: Carolina Araujo, Huda Mahmood, Kumudesh Sritharan, Joyce So, Muhammad Rafiq, Nasim Vasli, Asif Mir, Zubair Anwar, Sobiah Rauf, John B. Vincent, Talal Jamil, Sabir Ali, Abdul Shakoor, Muhammad Ayub, Anna Mikhailov, Kirti Mittal, Farooq Naeem

المصدر: Human genetics. 133(8)

مصطلحات موضوعية: Male, Blotting, Western, Genes, Recessive, medicine.disease_cause, Real-Time Polymerase Chain Reaction, Frameshift mutation, Immunoenzyme Techniques, Exon, Consanguinity, Intellectual Disability, Skp1, Genetics, medicine, Humans, Pakistan, RNA, Messenger, Frameshift Mutation, Genetics (clinical), Exome sequencing, Sequence Deletion, Mutation, biology, Reverse Transcriptase Polymerase Chain Reaction, F-Box Proteins, Tumor Suppressor Proteins, Homozygote, Chromosome Mapping, Molecular biology, Protein ubiquitination, Ubiquitin ligase, Pedigree, Cerebellar cortex, biology.protein, Female, Chromosomes, Human, Pair 16

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::43df3d0621f5bfdf628c335ff654c012Test
https://pubmed.ncbi.nlm.nih.gov/24623383Test

المؤلفون: Valérie Delague, B. Arnaud, Mireille Claustres, Christian P. Hamel, Jacques Demaille, C. Bareil

المصدر: Human Genetics. 108:328-334

مصطلحات موضوعية: Male, Candidate gene, Molecular Sequence Data, Cyclic Nucleotide-Gated Cation Channels, Genes, Recessive, Locus (genetics), Biology, Ion Channels, Gene mapping, Locus heterogeneity, Genetic linkage, Chromosome Segregation, Retinitis pigmentosa, Genetics, medicine, Animals, Humans, Amino Acid Sequence, Eye Proteins, Cyclic GMP, Gene, Genetics (clinical), Genetic heterogeneity, Chromosome Mapping, Rod Cell Outer Segment, medicine.disease, Pedigree, Mutation, Female, Chromosomes, Human, Pair 16, Retinitis Pigmentosa

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::54cc60860ac876a6d4499a10ffbb9bd8Test
https://doi.org/10.1007/s004390100496Test

المؤلفون: L. Telvi, J.B. de Jolinière, Jean Gogusev, S. du Manoir, M. Levardon, Alexandre Stojkoski, Mireille Doussau

المصدر: Human Genetics. 105:444-451

مصطلحات موضوعية: medicine.medical_specialty, Chromosomes, Human, Pair 22, Endometriosis, Biology, Genome, DNA sequencing, Gene duplication, Genetics, medicine, Humans, Gene, In Situ Hybridization, Fluorescence, Genetics (clinical), Chromosome Aberrations, Gene Amplification, Cytogenetics, Chromosome, DNA, medicine.disease, Chromosomes, Human, Pair 1, Chromosomes, Human, Pair 5, Chromosomes, Human, Pair 6, Female, Chromosome Deletion, Chromosomes, Human, Pair 9, Chromosomes, Human, Pair 16, Comparative genomic hybridization

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::791d9125b67f87552a26178ad1a7261bTest
https://doi.org/10.1007/s004390051129Test

المؤلفون: Rebecca L. Bilton, David F. Callen, Chatri Settasatian, Grant R. Sutherland, S.A. Whitmore, Joanna Crawford, Anne-Marie Cleton-Jansen

المصدر: Human Genetics. 105:139-144

مصطلحات موضوعية: Hereditary spastic paraplegia, Molecular Sequence Data, Single-nucleotide polymorphism, Biology, Loss of heterozygosity, Exon, Genetics, medicine, Humans, Tissue Distribution, Gene, Polymorphism, Single-Stranded Conformational, Genetics (clinical), Polymorphism, Genetic, Base Sequence, Models, Genetic, Spastic Paraplegia, Hereditary, Genetic heterogeneity, Alternative splicing, Intron, Metalloendopeptidases, Exons, Sequence Analysis, DNA, Blotting, Northern, Cosmids, medicine.disease, Molecular biology, Introns, Alternative Splicing, ATPases Associated with Diverse Cellular Activities, Chromosomes, Human, Pair 16

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cff22982de6fed5313636817e359f7d8Test
https://doi.org/10.1007/s004399900087Test

المؤلفون: Jacqueline Capeau, Muriel Erent, Ioan Lascu, Marie-Françoise Rousseau-Merck, Laurence Milon, Annie Munier, Marie-Lise Lacombe

المصدر: Human Genetics. 99:550-557

مصطلحات موضوعية: DNA, Complementary, Molecular Sequence Data, Biology, Homology (biology), Complementary DNA, Genetics, Animals, Humans, Amino Acid Sequence, Kinase activity, Gene, Phylogeny, Genetics (clinical), Monomeric GTP-Binding Proteins, Base Sequence, Sequence Homology, Amino Acid, cDNA library, Kinase, Nucleoside Diphosphate Kinase D, Nucleic acid sequence, Chromosome Mapping, NM23 Nucleoside Diphosphate Kinases, Molecular biology, Nucleoside-diphosphate kinase, Biochemistry, Multigene Family, Nucleoside-Diphosphate Kinase, Chromosomes, Human, Pair 16, Transcription Factors

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a1e1b19410081a35f41ecb1df77ce9f9Test
https://doi.org/10.1007/s004390050405Test