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1دورية أكاديمية
المؤلفون: Jeff Milunsky, Aubrey Milunsky
المصدر: Genetics in Medicine Open, Vol 1, Iss 1, Pp 100280- (2023)
وصف الملف: electronic resource
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المؤلفون: Aubrey Milunsky
المصدر: Genetic Disorders and the Fetus ISBN: 9781468434408
مصطلحات موضوعية: Risk, medicine.medical_specialty, congenital, hereditary, and neonatal diseases and abnormalities, Neural tube defect, Obstetrics, Spina bifida, business.industry, Incidence (epidemiology), Neural tube, Prenatal diagnosis, Congenital malformations, General Medicine, Northern ireland, medicine.disease, Congenital Abnormalities, medicine.anatomical_structure, Central Nervous System Diseases, Pregnancy, Prenatal Diagnosis, Humans, Medicine, Female, alpha-Fetoproteins, business, Demography
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4c03006cf621ab4e3025aa26d9926676
https://doi.org/10.1002/9781119676980.ch10 -
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المؤلفون: Clinton Baldwin, Richard P. Lifton, Jungmin Choi, Jeff M. Milunsky, Junhui Zhang, Weilai Dong, Aubrey Milunsky, Kaya Bilguvar
المصدر: Clinical Genetics. 96:473-477
مصطلحات موضوعية: Adult, Male, 0301 basic medicine, Heterozygote, Adolescent, Genetic counseling, 030105 genetics & heredity, Biology, medicine.disease_cause, Young Adult, 03 medical and health sciences, Genetic linkage, Exome Sequencing, Myosin, Genetics, medicine, Humans, FLNA, Abnormalities, Multiple, Genetic Testing, Child, Genetics (clinical), Exome sequencing, Aged, Mutation, Myosin Heavy Chains, Intestinal Pseudo-Obstruction, Infant, Newborn, Genetic Variation, Infant, MYLK, Middle Aged, 030104 developmental biology, Gastrointestinal disorder, Child, Preschool, Female
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المؤلفون: Aubrey Milunsky
المصدر: Acta obstetricia et gynecologica ScandinavicaREFERENCES. 100(6)
مصطلحات موضوعية: Adult, medicine.medical_specialty, media_common.quotation_subject, Encephalopathy, Hypoxic Ischemic Encephalopathy, Congenital Abnormalities, Pregnancy, Malpractice, medicine, Humans, Family history, Intensive care medicine, media_common, Medical Errors, business.industry, Genetic disorder, Obstetrics and Gynecology, Liability, Legal, General Medicine, medicine.disease, Obstetrics, Pregnancy Complications, Grief, Female, Patient Safety, Abnormality, business
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المؤلفون: Aurora Pujol, Linyan Meng, Rachel Schrader, Christian P. Schaaf, Jane Juusola, Megan A. Waldrop, Aubrey Milunsky, Jill A. Rosenfeld, Kevin M. Flanigan, Mónica Troncoso, Ozlem Goker-Alpan, Chun-An Chen, Queenie K.‐G. Tan, Nathalie Launay, Heidi Cope, Agatha Schlüter, Shen Gu
المصدر: Hum Mutat
مصطلحات موضوعية: Male, Spastic gait, Hereditary spastic paraplegia, Mutant, Biology, Article, 03 medical and health sciences, Exome Sequencing, Genetics, medicine, Humans, Genetic Predisposition to Disease, Spasticity, Lymphocytes, Age of Onset, Child, Gene, Genetics (clinical), Exome sequencing, Genetic Association Studies, 030304 developmental biology, 0303 health sciences, Spastic Paraplegia, Hereditary, 030305 genetics & heredity, RNA, medicine.disease, Clonus, Pedigree, Phenotype, Genetic Loci, Mutation, Female, medicine.symptom, Carrier Proteins
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6419c258a6d6736cb2f3b6743f1a9d2d
https://europepmc.org/articles/PMC8207780/ -
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المصدر: J Assist Reprod Genet
مصطلحات موضوعية: 0301 basic medicine, Adult, Male, Y chromosome microdeletion, Genetic counseling, urologic and male genital diseases, Cataract, Male infertility, 03 medical and health sciences, 0302 clinical medicine, Testis, Genetics, Medicine, Humans, Spermatogenesis, Genetics (clinical), Azoospermia, Chromosome Aberrations, Chromosomes, Human, X, 030219 obstetrics & reproductive medicine, business.industry, Tooth Abnormalities, Obstetrics and Gynecology, Chromosome, Correction, Genetic Diseases, X-Linked, General Medicine, Oligospermia, Microdeletion syndrome, medicine.disease, Human genetics, 030104 developmental biology, Reproductive Medicine, Congenital cataracts, Chromosome Deletion, business, Developmental Biology
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المؤلفون: Adrian Curnow, Xiaoying Zhang, Daniel Primack, Jeff M. Milunsky, Clinton T. Baldwin, Aubrey Milunsky
المصدر: Journal of Pediatric Gastroenterology & Nutrition. 65:384-387
مصطلحات موضوعية: Adult, Genetic Markers, Male, 0301 basic medicine, Proband, Duodenum, Genetic counseling, Urinary Bladder, Bioinformatics, Article, 03 medical and health sciences, symbols.namesake, 0302 clinical medicine, Exome Sequencing, Genotype, Humans, Medicine, Genetic Testing, Child, Exome, Exome sequencing, Genetic testing, Sanger sequencing, medicine.diagnostic_test, Genetic heterogeneity, business.industry, Intestinal Pseudo-Obstruction, Infant, Newborn, Gastroenterology, Infant, Sequence Analysis, DNA, Actins, Fetal Diseases, 030104 developmental biology, Child, Preschool, Chronic Disease, Mutation, Pediatrics, Perinatology and Child Health, symbols, Female, 030211 gastroenterology & hepatology, business
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المصدر: Journal of Assisted Reproduction and Genetics. 38:2501-2501
مصطلحات موضوعية: Non obstructive azoospermia, Pediatrics, medicine.medical_specialty, business.industry, MEDLINE, Reproductive medicine, Obstetrics and Gynecology, General Medicine, Microdeletion syndrome, medicine.disease, Human genetics, Reproductive Medicine, Genetics, Congenital cataracts, medicine, business, Genetics (clinical), Developmental Biology
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المؤلفون: Jeff M. Milunsky, Clinton Baldwin, Weilai Dong, Jungmin Choi, Aubrey Milunsky, Kaya Bilguvar, Junhui Zhang, Richard P. Lifton
مصطلحات موضوعية: Intestinal pseudo-obstruction, MYH11, medicine, Identification (biology), Computational biology, Biology, medicine.disease, Exome sequencing
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::107161b1430a9b8354d900a411e165f0
https://doi.org/10.1111/cge.13617/v2/response1
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