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1
المؤلفون: Patricia G. Wheeler, Karen L. David, Eric Weh, Hannah Happ, Natalie Hauser, Brad Angle, Linda M. Reis, Erin Carney, Alex V. Levin, Elena V. Semina
المصدر: Human genetics. 133(12)
مصطلحات موضوعية: Male, PAX6 Transcription Factor, Filamins, Nonsense mutation, Anion Transport Proteins, DNA Mutational Analysis, Molecular Sequence Data, Mutation, Missense, Lyases, Nerve Tissue Proteins, Biology, Compound heterozygosity, Antiporters, Article, Dysgenesis, Corneal Opacity, Anterior Eye Segment, Prenatal Diagnosis, Genetics, Missense mutation, FLNA, Humans, Paired Box Transcription Factors, Exome, Genetic Predisposition to Disease, Amino Acid Sequence, Eye Abnormalities, Child, Eye Proteins, Genetics (clinical), Exome sequencing, Genetic Association Studies, Homeodomain Proteins, Sequence Analysis, RNA, Infant, Pedigree, Repressor Proteins, Transcription Factor AP-2, Mutation (genetic algorithm)
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2
المؤلفون: Heidi Holtgreve-Grez, Michaela Brough, Susanne Popp, Inge Rauterberg-Ruland, Anna Jauch, Monika Keller, Gholamali Tariverdian, H. D. Hager, Brigitte Schoell, Martin Granzow
المصدر: Human Genetics. 107:51-57
مصطلحات موضوعية: Adult, Male, Genetic counseling, Cri du Chat Syndrome, Chromosomal translocation, Prenatal diagnosis, Biology, Translocation, Genetic, Intellectual Disability, Genetics, medicine, Humans, Multiplex, In Situ Hybridization, Fluorescence, Genetics (clinical), Family Health, medicine.diagnostic_test, Facies, Chromosome, Telomere, Molecular biology, Pedigree, Child, Preschool, Chromosomes, Human, Pair 5, Female, Chromosomes, Human, Pair 3, Fluorescence in situ hybridization
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5cfa6a44b35233c374e8b112fa5ae19b
https://doi.org/10.1007/s004390000321 -
3
المؤلفون: Shigeo Kure, Yoshiyuki Sakata, Keiya Tada, Hanna Mandel, Marie-Odile Rolland, Kuniaki Narisawa, Aryeb Drugan, Avihu Boneh, Yoichi Matsubara, Toshikatsu Shinka
المصدر: Human Genetics. 102:430-434
مصطلحات موضوعية: Hydroxymethyl and Formyl Transferases, Male, Hyperglycinemia, Genetic counseling, DNA Mutational Analysis, Glycine, Biology, Arginine, Glycine encephalopathy, Exon, Prenatal Diagnosis, Genotype, Genetics, medicine, Aminomethyltransferase, Humans, Missense mutation, Histidine, Israel, Amino Acid Metabolism, Inborn Errors, Gene, Genetics (clinical), Infant, Newborn, Intron, medicine.disease, Arabs, Pedigree, Amino Acid Substitution, Liver, Mutation, Female
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d4ca068149de2f7fbd6691b706b0c364
https://doi.org/10.1007/s004390050716 -
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المؤلفون: Mingli Hsieh, Hung-Ming Wu, Shuan-Yow Li, Tsong-Ming Lu, Hui-Fang Tsai, Chien-Ying Yang
المصدر: Human Genetics. 100:155-162
مصطلحات موضوعية: Adult, China, congenital, hereditary, and neonatal diseases and abnormalities, Population, Taiwan, Biology, Asian People, Trinucleotide Repeats, Prenatal Diagnosis, mental disorders, Genetics, medicine, Humans, Genetic Testing, Age of Onset, education, Genetics (clinical), Aged, education.field_of_study, Cerebellar ataxia, Machado-Joseph Disease, Middle Aged, medicine.disease, Amyotrophy, Pedigree, Anticipation (genetics), Linear Models, Microsatellite, Chorionic Villi, Age of onset, medicine.symptom, Trinucleotide repeat expansion, Machado–Joseph disease
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::28bb0711d886ec1b5f2031362ed7417a
https://doi.org/10.1007/s004390050483 -
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المؤلفون: Christopher J. Danpure, M J Lumb, P E Purdue, Graeme M. Birdsey, J Allsop, G Rumsby
المصدر: Human Genetics. 94:55-64
مصطلحات موضوعية: Male, Molecular Sequence Data, Biology, Exon, Gene Frequency, Tandem repeat, Prenatal Diagnosis, Gene duplication, Genetics, Humans, Allele, Allele frequency, Alleles, Transaminases, Genetics (clinical), Repetitive Sequences, Nucleic Acid, Retrospective Studies, Repeat unit, Hyperoxaluria, Polymorphism, Genetic, Base Sequence, Point mutation, Intron, Alanine Transaminase, DNA, Molecular biology, Introns, Pedigree, Liver, Female
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e04adb5c580262fa335999d9dadb371d
https://doi.org/10.1007/bf02272842 -
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المؤلفون: E. Martin Ritzén, B Haglund-Stengler, Holger Luthman, Olle Olerup
المصدر: Human Genetics. 85:467-472
مصطلحات موضوعية: Male, Sex Determination Analysis, TaqI, Locus (genetics), Prenatal diagnosis, Biology, Random Allocation, chemistry.chemical_compound, HLA-DQ Antigens, Genetics, Humans, Sibling, Allele, Child, Deoxyribonucleases, Type II Site-Specific, Genetics (clinical), Adrenal Hyperplasia, Congenital, Homozygote, Haplotype, HLA-DR Antigens, HLA-B, Pedigree, Blotting, Southern, Haplotypes, chemistry, HLA-B Antigens, Female, Steroid 21-Hydroxylase, Restriction fragment length polymorphism, DNA Probes, Polymorphism, Restriction Fragment Length
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d12ecc22824991717845201a08c11ec5
https://doi.org/10.1007/bf00194218 -
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المؤلفون: C. J. van Asperen, A. S. P. M. Breed, J. O. Van Hemel, K. Madan, A. J. H. Hamers, L. P. Kuyt, J. M. de Pater, Dominique Smeets, T. W. J. Hustinx, M.H.E.C. Pieters, K. B. J. Gerssen-Schoorl
المصدر: HUMAN GENETICS, 85(1), 15-20. SPRINGER
مصطلحات موضوعية: Chromosome Aberrations, Male, Genetics, Chromosomes, Human, Pair 11, Genetic Carrier Screening, Chromosome Disorders, Biology, Pedigree, Abortion, Spontaneous, Pays bas, Inversion (linguistics), Phenotype, Sex Factors, Pregnancy, Prenatal Diagnosis, Chromosome Inversion, Humans, Female, Single mutation, Genetics (clinical), Netherlands, Chromosomal inversion
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::754d0c3c0ac48a53e079cba8d26b725d
https://doi.org/10.1007/bf00276319 -
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المؤلفون: Andrew M. Fisher, Lisa Williams, Jane Currie, Jean Walker, Paul Roberts, Morag N. Collinson
المصدر: Human genetics. 101(2)
مصطلحات موضوعية: Proband, Male, medicine.medical_specialty, Heterozygote, Genetic counseling, Prenatal diagnosis, Genetic Counseling, Biology, Pregnancy, Prenatal Diagnosis, Genetics, medicine, Humans, Fetal Death, Genetics (clinical), Chromosomal inversion, Recombination, Genetic, Chromosomes, Human, Pair 10, Cytogenetics, Chromosome, Genetic Variation, medicine.disease, Human genetics, United Kingdom, Pedigree, Abortion, Spontaneous, Fertility, Chromosome Inversion, Chromosome abnormality, Female
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::41e664c430104f000a89ca7a80a8fbe2
https://pubmed.ncbi.nlm.nih.gov/9402964 -
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المؤلفون: Amy E. Pepper, Lindsay A. Middelton, Jennifer M. Puck
المصدر: Human genetics. 99(5)
مصطلحات موضوعية: Male, X Chromosome, Macromolecular Substances, Genetic Carrier Screening, Prenatal diagnosis, Biology, Polymerase Chain Reaction, Risk Assessment, Frameshift mutation, Cell Line, Predictive Value of Tests, Pregnancy, Prenatal Diagnosis, Genetics, medicine, Humans, Point Mutation, X-linked severe combined immunodeficiency, Frameshift Mutation, Genetics (clinical), Polymorphism, Single-Stranded Conformational, Severe combined immunodeficiency, Genes, Immunoglobulin, Point mutation, Genetic disorder, Infant, Newborn, Receptors, Interleukin-2, DNA, Exons, medicine.disease, Pedigree, Immunology, Cytokines, Female, Severe Combined Immunodeficiency
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cf76e36d96020450c4845f4cf939fbac
https://pubmed.ncbi.nlm.nih.gov/9150730 -
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المؤلفون: Martinus F. Niermeijer, Nienke Essed, Dennis Dooijes, Aida M. Bertoli-Avella, Lotte E. de Groot-de Laat, Ingrid F. M. Frohn-Mulder, J. W. Wladimiroff, Folkert J. ten Cate, Patrick J. Willems, Margot M. Bartelings, Ronald R. de Krijger, Peter Heutink, Titia E. Cohen-Overbeek, Ben A. Oostra, Bianca M. de Graaf, S.E.C. Spitaels, Marja W. Wessels
المساهمون: Human genetics, Neuroscience Campus Amsterdam 2008, Clinical Genetics, Obstetrics & Gynecology, Cardiology, Pediatrics, Pathology
المصدر: Human Genetics, 122(6), 595-603. Springer Verlag
Wessels, M W, de Graaf, B M, Cohen-Overbeek, T E, Spitaels, S E, de Groot-de Laat, L, ten Cate, F J, Frohn-Mulder, I F M, de Krijger, R, Bartelings, M M, Essed, N, Wladimiroff, J W, Niermeijer, M F, Heutink, P, Oostra, B A, Dooijes, D, Bertoli-Avella, A M & Willems, P J 2008, ' A new syndrome with noncompaction cardiomyopathy, bradycardia, pulmonary stenosis, atrial septal defect and heterotaxy with suggestive linkage to chromosome 6p ', Human Genetics, vol. 122, no. 6, pp. 595-603 . https://doi.org/10.1007/s00439-007-0436-x
Human Genetics, 122, 595-603. Springer-Verlag
Human Genetics, 122, 595-603
Human Genetics, 122, 6, pp. 595-603مصطلحات موضوعية: Adult, Male, Noncompaction cardiomyopathy, medicine.medical_specialty, Genetic Linkage, Sinus bradycardia, Cardiomyopathy, Biology, Inferior vena cava, Heart Septal Defects, Atrial, Genomic disorders and inherited multi-system disorders [IGMD 3], Pregnancy, Internal medicine, Prenatal Diagnosis, Genetics, medicine, Bradycardia, Humans, Family, Genetics (clinical), Heart septal defect, Triplets, Infant, Newborn, Chromosome Mapping, Syndrome, Middle Aged, medicine.disease, Pedigree, Pulmonary Valve Stenosis, Endocrinology, medicine.vein, Genetic defects of metabolism [UMCN 5.1], Child, Preschool, Pulmonary valve stenosis, Mutation, Cardiology, cardiovascular system, Polysplenia, Chromosomes, Human, Pair 6, Female, medicine.symptom, Cardiomyopathies, Heterotaxy, Intestinal Volvulus
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