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1Academic Journal
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
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3
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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6
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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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
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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: 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
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المؤلفون: Aubrey Milunsky, Tamah L. Sadick
المصدر: Genetic Diseases and Developmental Disabilities ISBN: 9780429048159
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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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12eBook
المؤلفون: Aubrey Milunsky, Jeff M. Milunsky
Resource Type: eBook.
الموضوعات: Fetus--Abnormalities--Genetic aspects, Fetus--Diseases--Genetic aspects, Prenatal diagnosis
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المؤلفون: Nancy C. Rose, Peter Benn, Aubrey Milunsky
المصدر: Prenatal Diagnosis. 36:10-14
مصطلحات موضوعية: 0301 basic medicine, Gynecology, medicine.medical_specialty, Pregnancy, 030219 obstetrics & reproductive medicine, Obstetrics, Maternal Serum Screening Tests, MEDLINE, Obstetrics and Gynecology, Prenatal diagnosis, 030105 genetics & heredity, Biology, medicine.disease, 03 medical and health sciences, 0302 clinical medicine, medicine, Genetics (clinical)
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المؤلفون: Aubrey Milunsky, Joanna Lazier, Daniel Primack, Jeff M. Milunsky, Carmen Young, Clinton T. Baldwin
المصدر: Prenatal diagnosis. 37(12)
مصطلحات موضوعية: 0301 basic medicine, Intestinal pseudo-obstruction, Male, Prenatal diagnosis, Bioinformatics, Ultrasonography, Prenatal, 03 medical and health sciences, 0302 clinical medicine, Text mining, Pregnancy, medicine, Humans, Genetics (clinical), business.industry, Mosaicism, Intestinal Pseudo-Obstruction, Obstetrics and Gynecology, medicine.disease, Actins, 030104 developmental biology, Somatic mosaicism, 030211 gastroenterology & hepatology, Female, Ultrasonography, business
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15eBook
المؤلفون: Aubrey Milunsky, Jeff M. Milunsky
Resource Type: eBook.
الموضوعات: Fetus--Abnormalities--Genetic aspects, Fetus--Diseases--Genetic aspects, Genetic disorders, Prenatal diagnosis
Categories: MEDICAL / Gynecology & Obstetrics
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المؤلفون: Peter Storgaard Skagen, David Dejour, Aubrey Milunsky, Bente Stærgaard, Thomas Horn, Hanne Aagaard Kruse, Tom Nicolaisen
المصدر: Microscopy Research. :19-29
مصطلحات موضوعية: musculoskeletal diseases, Pathology, medicine.medical_specialty, Cartilage, Type II collagen, Autosomal dominant trait, Biology, medicine.disease, Chondrocyte, medicine.anatomical_structure, Dysplasia, medicine, Patella, Type I collagen, Immunostaining
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المؤلفون: Aubrey Milunsky
المصدر: Journal of the American Board of Family Medicine : JABFM. 30(3)
مصطلحات موضوعية: Genetic Markers, medicine.medical_specialty, Heterozygote, Prenatal diagnosis, 03 medical and health sciences, 0302 clinical medicine, Pregnancy, Prenatal Diagnosis, New genetics, medicine, Humans, Genetic Predisposition to Disease, 030212 general & internal medicine, Genetic Testing, Medical diagnosis, Intensive care medicine, Incidental Findings, business.industry, Genetic heterogeneity, Public Health, Environmental and Occupational Health, Genetic Diseases, Inborn, Sequence Analysis, DNA, Human genetics, Clinical Practice, Phenotype, 030220 oncology & carcinogenesis, Mutation, Medical genetics, Identification (biology), Female, Family Practice, business
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المصدر: Stem Cell Discovery. :1-4
مصطلحات موضوعية: Pathology, medicine.medical_specialty, Coloboma, business.industry, Genetic counseling, medicine.disease, Umbilical cord, CHARGE syndrome, Haematopoiesis, medicine.anatomical_structure, Cord blood, Atresia, Immunology, Medicine, Stem cell, business
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المؤلفون: Aubrey Milunsky, Al Bandary Al-Bakheet, Mohammed Al-Owain, Aziza Chedrawi, Namik Kaya, Mohammed A. AlMuhaizea, Hamad Al-Zaidan, Nadia Al-Hashmi, Raveen K. Basran
المصدر: Clinical Genetics. 79:363-370
مصطلحات موضوعية: Male, congenital, hereditary, and neonatal diseases and abnormalities, Cerebellum, Adolescent, DNA Mutational Analysis, Biology, X-inactivation, Young Adult, Exon, Cerebellar Diseases, X Chromosome Inactivation, Genetics, medicine, Humans, Abnormalities, Multiple, Child, Cerebellar hypoplasia, Genetics (clinical), Family Health, Comparative Genomic Hybridization, GTPase-Activating Proteins, Intron, Facies, Nuclear Proteins, Exons, medicine.disease, Hypoplasia, Pedigree, Developmental disorder, Cytoskeletal Proteins, medicine.anatomical_structure, Child, Preschool, Mental Retardation, X-Linked, Female, Gene Deletion, Comparative genomic hybridization
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المصدر: Pediatrics. 126:e1594-e1598
مصطلحات موضوعية: Delayed puberty, Pediatrics, medicine.medical_specialty, Adolescent, Kallmann syndrome, Anosmia, Choanal atresia, Diagnosis, Differential, CHARGE syndrome, Hypogonadotropic hypogonadism, otorhinolaryngologic diseases, medicine, Humans, Genetic testing, Puberty, Delayed, medicine.diagnostic_test, business.industry, DNA Helicases, DNA, medicine.disease, Magnetic Resonance Imaging, DNA-Binding Proteins, Mutation, Pediatrics, Perinatology and Child Health, Female, CHARGE Syndrome, medicine.symptom, Tomography, X-Ray Computed, business, Hypogonadotrophic hypogonadism
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