المؤلفون: Nada Derar, John A. Sayer, Khushnooda Ramzan, Gawaher Almutairi, Bashayer Saeed, Hanifa Bukhari, Nora Almuhana, Rubina Khan, Laila Alquayt, Maha Tulbah, Rafiullah Rafiullah, Maisoon Almugbel, Saja S Alamri, Dorota Monies, Faiqa Imtiaz, Asma Akilan, Abrar AlKhalifah, Mirna Assoum, Rana Akili, Fahad Hakami, Samia AlDawoud, Wardah AlMubarak, Zuhair Rahbeeni, Afaf Al-Otaibi, Amal AlShammasi, Wesam Kurdi, Samia Hagos, Maha Alnemer, Nada Alsahan, Hadeel Elbardisy, Wafaa Ali, Mohannad Ali, Mohamed Abouelhoda, Mohamed H Al-Hamed, Zeeshan Shah

المصدر: Human Genetics. 141:101-126

مصطلحات موضوعية: Genetics, Fetus, education.field_of_study, Population, Prenatal diagnosis, Consanguinity, Biology, medicine.disease, Human genetics, Ciliopathy, medicine, education, Genetics (clinical), Loss function, Exome sequencing

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::62727c75f16b3614a697df65b5799d2b
https://doi.org/10.1007/s00439-021-02406-9

المؤلفون: Louise D. Bryant

المصدر: Human Genetics

مصطلحات موضوعية: Down syndrome, MEDLINE, Biology, Bioinformatics, medicine.disease, Human genetics, Pregnancy, Prenatal Diagnosis, Perspective, Genetics, medicine, Humans, Female, Genetic Testing, Down Syndrome, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::489a72d43dce2c2bbdbd46ccf50230d3
http://europepmc.org/articles/PMC8128085

المؤلفون: Dallas Reed, Julie Stone

المصدر: Human Genetics. 139:1173-1182

مصطلحات موضوعية: medicine.medical_specialty, Best practice, Mothers, Fertilization in Vitro, Biology, Medical care, Obstetric care, 03 medical and health sciences, Life Expectancy, Obstetrics and gynaecology, Pregnancy, Prenatal Diagnosis, Genetics, medicine, Humans, Intensive care medicine, Preimplantation Diagnosis, Genetics (clinical), 030304 developmental biology, 0303 health sciences, business.industry, 030305 genetics & heredity, Genetic Diseases, Inborn, Infant, medicine.disease, Human genetics, Life expectancy, Female, business, Rare disease

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4dad061cab1b7ae152b44cde85cb7f9a
https://doi.org/10.1007/s00439-019-02086-6

المؤلفون: Mohamed H, Al-Hamed, Wesam, Kurdi, Rubina, Khan, Maha, Tulbah, Maha, AlNemer, Nada, AlSahan, Maisoon, AlMugbel, Rafiullah, Rafiullah, Mirna, Assoum, Dorota, Monies, Zeeshan, Shah, Zuhair, Rahbeeni, Nada, Derar, Fahad, Hakami, Gawaher, Almutairi, Afaf, AlOtaibi, Wafaa, Ali, Amal, AlShammasi, Wardah, AlMubarak, Samia, AlDawoud, Saja, AlAmri, Bashayer, Saeed, Hanifa, Bukhari, Mohannad, Ali, Rana, Akili, Laila, Alquayt, Samia, Hagos, Hadeel, Elbardisy, Asma, Akilan, Nora, Almuhana, Abrar, AlKhalifah, Mohamed, Abouelhoda, Khushnooda, Ramzan, John A, Sayer, Faiqa, Imtiaz

المصدر: Human genetics. 141(1)

مصطلحات موضوعية: Chromosome Aberrations, Genetic Variation, Microarray Analysis, Ciliopathies, Cohort Studies, Consanguinity, Fetus, Phenotype, Pregnancy, Prenatal Diagnosis, Exome Sequencing, Humans, Female, Genetic Predisposition to Disease, Genetic Testing

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::05f5ca1e35538c0d0a604ebde41b5b6c
https://pubmed.ncbi.nlm.nih.gov/34853893

المؤلفون: Joana Fino, Inês Carvalho, Dezső David, Manuela Cardoso, Raul E. Piña-Aguilar, Mariana Marques, Cynthia C. Morton, João Freixo

المصدر: David, D, Freixo, J P, Fino, J, Carvalho, I, Marques, M, Cardoso, M, Piña-aguilar, R E & Morton, C C 2020, ' Comprehensive clinically oriented workflow for nucleotide level resolution and interpretation in prenatal diagnosis of de novo apparently balanced chromosomal translocations in their genomic landscape ', Human Genetics . https://doi.org/10.1007/s00439-020-02121-x

مصطلحات موضوعية: Adult, Male, Adolescent, Chromosomal translocation, Prenatal diagnosis, Chromosome Disorders, Biology, Translocation, Genetic, Workflow, 03 medical and health sciences, Pregnancy, Intellectual Disability, Prenatal Diagnosis, Genetics, medicine, Chromosomes, Human, Humans, Abnormalities, Multiple, Genetics (clinical), 030304 developmental biology, Genes, Dominant, Phenocopy, 0303 health sciences, Bone Diseases, Developmental, Tooth Abnormalities, 030305 genetics & heredity, Breakpoint, Autosomal dominant trait, Facies, medicine.disease, Human genetics, Doenças Genéticas, 3. Good health, Female, Haploinsufficiency, Trisomy

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bccff69d82ff6ce5da64043a8215c03e
https://pubmed.ncbi.nlm.nih.gov/32030560

المؤلفون: Olivia Sniezek, Devereux N. Saller, Aleksandar Rajkovic, Huaiyang Jiang, Daniel B. Bellissimo, Mahmoud Aarabi, Svetlana A. Yatsenko

المصدر: Human Genetics. 137:175-181

مصطلحات موضوعية: Male, 0301 basic medicine, Databases, Factual, Genotype, Microarray, Prenatal diagnosis, 030105 genetics & heredity, Biology, Bioinformatics, Congenital Abnormalities, 03 medical and health sciences, symbols.namesake, Fetus, Holoprosencephaly, Pregnancy, Prenatal Diagnosis, Exome Sequencing, Genetics, medicine, Humans, Exome, Genetics (clinical), Exome sequencing, Retrospective Studies, Sanger sequencing, medicine.disease, Human genetics, symbols, Female

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dfc3f60e5c1702a8a3342b94158366e6
https://doi.org/10.1007/s00439-017-1860-1

المؤلفون: Kathryn J. Gray, Louise Wilkins-Haug

المصدر: Hum Genet

مصطلحات موضوعية: MEDLINE, Computational biology, Biology, Article, Human genetics, Congenital Abnormalities, Fetal Diseases, Pregnancy, Prenatal Diagnosis, Genetics, Humans, Genomic medicine, Female, Genetic Testing, Maternal-Fetal Exchange, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b4406faed2bfbc09872f9f03cc0c41df
https://doi.org/10.1007/s00439-020-02217-4

المؤلفون: Stephanie H. Guseh

المصدر: Human genetics. 139(9)

مصطلحات موضوعية: Noninvasive Prenatal Testing, Aneuploidy, Computational biology, Biology, 03 medical and health sciences, Pregnancy, Prenatal Diagnosis, Genetics, medicine, Screening method, Humans, False Positive Reactions, Copy-number variation, Gene, False Negative Reactions, Genetics (clinical), 030304 developmental biology, 0303 health sciences, Massive parallel sequencing, 030305 genetics & heredity, Genetic Diseases, Inborn, High-Throughput Nucleotide Sequencing, DNA, medicine.disease, Human genetics, Female, Cell-Free Nucleic Acids

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::023f070ca263bfc6dbfc53f6a15343d5
https://pubmed.ncbi.nlm.nih.gov/31555907

المؤلفون: Eric Haan, Kevin Priest, Gustaaf A. Dekker, Alastair H. MacLennan, Paul N. Goldwater, Catherine S. Gibson, Gai L McMichael

المصدر: Human Genetics. 124:411-416

مصطلحات موضوعية: Apolipoprotein E, Genotype, Population, Physiology, Prenatal diagnosis, Biology, Polymerase Chain Reaction, White People, Cerebral palsy, Apolipoproteins E, Pregnancy, Prenatal Diagnosis, Genetics, medicine, Humans, education, Genetics (clinical), education.field_of_study, Cerebral Palsy, Diplegia, Case-control study, Gestational age, medicine.disease, Case-Control Studies, Female

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ea276d3b51c3cd863915c514d5ab9068
https://doi.org/10.1007/s00439-008-0564-y

المؤلفون: Ian A. Glass, Daniel Pinkel, Emily Chen, Katherine A. Rauen, Philip D. Cotter, Jillian Parkes, Donna G. Alberston

المصدر: Human Genetics. 118:611-617

مصطلحات موضوعية: Adult, clone (Java method), Genotype, Ring chromosome, Prenatal diagnosis, Biology, Chromosome 15, Pregnancy, Prenatal Diagnosis, Genetics, medicine, Humans, Ring Chromosomes, In Situ Hybridization, Fluorescence, Genetics (clinical), Chromosome Aberrations, Chromosomes, Human, Pair 15, medicine.diagnostic_test, Nucleic Acid Hybridization, Karyotype, Subtelomere, Molecular biology, Phenotype, Karyotyping, Female, Fluorescence in situ hybridization, Comparative genomic hybridization

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6c2ee6c01edb19b2f0f0eefa6ec689fb
https://doi.org/10.1007/s00439-005-0030-z