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المؤلفون: Kris Rutkowski, Antonio Ysunza, David J. Aughton, Mark Micale, Richard Merson, Kenneth Shaheen
المصدر: International Journal of Pediatric Otorhinolaryngology. 77:1601-1605
مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, Velopharyngeal Insufficiency, Dentistry, Long arm, Contiguous gene syndrome, Diagnosis, Differential, Facial dysmorphism, Rare Diseases, Velopharyngeal insufficiency, Humans, Medicine, Articulation Disorders, Jacobsen Distal 11q Deletion Syndrome, Jacobsen syndrome, Child, Phonological Disorder, Psychomotor learning, Laryngoscopy, business.industry, Cineradiography, General Medicine, medicine.disease, Cleft Palate, Otorhinolaryngology, Submucous cleft palate, Pediatrics, Perinatology and Child Health, Female, business, Follow-Up Studies
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d3f0b8b2e1be9fb49afe85a19136328c
https://doi.org/10.1016/j .ijporl.2013.06.007 -
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المصدر: European journal of medical genetics. 59(12)
مصطلحات موضوعية: 0301 basic medicine, Male, Pathology, medicine.medical_specialty, medicine.medical_treatment, Trisomy, Biology, Bioinformatics, Malignancy, Polymorphism, Single Nucleotide, Wilms Tumor, 03 medical and health sciences, 0302 clinical medicine, Gene duplication, Chromosome Duplication, Genetics, medicine, Humans, Abnormalities, Multiple, Genetics (clinical), N-Myc Proto-Oncogene Protein, Chromosome, Infant, Karyotype, Wilms' tumor, General Medicine, medicine.disease, Microarray Analysis, Nephrectomy, Kidney Neoplasms, 030104 developmental biology, 030220 oncology & carcinogenesis, Chromosomes, Human, Pair 2, Karyotyping, SNP array
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المؤلفون: David J. Aughton, Bassem H. Dekelbab, Michael A. Levine
المصدر: Endocrine Practice. 15:249-253
مصطلحات موضوعية: Proband, medicine.medical_specialty, Pediatrics, Endocrinology, Diabetes and Metabolism, Birth weight, Context (language use), Fibrous Dysplasia, Polyostotic, Child Development, Endocrinology, Chromogranins, GTP-Binding Protein alpha Subunits, Gs, medicine, Humans, Pseudohypoparathyroidism, business.industry, Fibrous dysplasia, Primary hypothyroidism, Infant, Pilomatricoma, General Medicine, medicine.disease, Obesity, Obesity, Morbid, Surgery, Female, business
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المؤلفون: Stephen R. Braddock, Azza Abd El Moneim, Raoul C.M. Hennekam, Jeffrey E. Ming, Judith Allanson, Annick Raas-Rothschild, Dagmar Wieczorek, David J. Aughton, Alain Verloes, Karen W. Gripp, Theresa A. Grebe, Sarah M. Nikkel, Bryan D. Hall, Nicole Philip, Kirk Aleck, Annemarie Sommer, Nancy Mizue Kokitsu-Nakata, Linlea Armstrong, Alasdair G. W. Hunter, Clarisse Baumann, Claudia U. Walter, Gabriele Gillessen-Kaesbach, Angela E. Lin, John M. Graham, Elaine H. Zackai, Kim M. Keppler-Noreuil, Didier Lacombe, Marc S. Williams
المصدر: American Journal of Medical Genetics Part A. :265-272
مصطلحات موضوعية: Genetics, Pediatrics, medicine.medical_specialty, business.industry, Paternal age, medicine.disease, Genetic etiology, Popliteal pterygium syndrome, Gene duplication, medicine, Etiology, Van der Woude syndrome, IRF6, business, Kabuki syndrome, Genetics (clinical)
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المؤلفون: Ivana M. Vettraino, David J. Aughton, Cheryl E. Harper, Wesley Lee, Christine H. Comstock, Richard A. Bronsteen
المصدر: Obstetrics & Gynecology. 102:801-805
مصطلحات موضوعية: Adult, Michigan, medicine.medical_specialty, Pediatrics, Amniotic fluid, Cleft Lip, Micrognathism, Gestational Age, Prenatal diagnosis, Medical Records, Ultrasonography, Prenatal, Pregnancy, medicine, Humans, Retrospective Studies, Respiratory Distress Syndrome, Newborn, business.industry, Infant, Newborn, Pregnancy Outcome, Obstetrics and Gynecology, Gestational age, Retrospective cohort study, Airway obstruction, medicine.disease, Surgery, Cleft Palate, medicine.anatomical_structure, Female, Hard palate, Abnormality, business
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المؤلفون: Erin T. Strovel, Michael J. Rivkin, David J. Aughton, Robert Kleta, Marvin R. Natowicz, Donna M. Krasnewich, Marjan Huizing, Yair Anikster, Eduard Orvisky, William A. Gahl
المصدر: American Journal of Medical Genetics. :28-33
مصطلحات موضوعية: Male, Sialuria, Heterozygote, medicine.medical_specialty, DNA Mutational Analysis, Molecular Sequence Data, Infantile free sialic acid storage disease, Organic Anion Transporters, Biology, Polymerase Chain Reaction, Diagnosis, Differential, chemistry.chemical_compound, Internal medicine, medicine, Humans, Genetics (clinical), Splice site mutation, Base Sequence, Symporters, Sialic Acid Storage Disease, Facies, Infant, Exons, Fibroblasts, medicine.disease, Sialic acid transport, Introns, N-Acetylneuraminic Acid, Sialic acid, Salla disease, Endocrinology, chemistry, Child, Preschool, Mutation, Immunology, Female, Lysosomes, N-Acetylneuraminic acid, Subcellular Fractions
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::27641534654a9380273f6accb1878dfd
https://doi.org/10.1002/ajmg.a.20024 -
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المؤلفون: Christopher Cunniff, John Opitz, John B. Moeschler, Jack Tarleton, Marilyn C. Jones, Suzanne B. Cassidy, John C. Carey, Janice L. B. Byrne, G. Bradley Schaefer, John M. Graham, Roger E. Stevenson, David J. Aughton, Cynthia J. Curry, Michael M. Kaback, Stuart Schwartz
المصدر: American Journal of Medical Genetics. 72:468-477
مصطلحات موضوعية: Microcephaly, medicine.medical_specialty, business.industry, Macrocephaly, medicine.disease, Fragile X syndrome, Developmental disorder, Neuroimaging, medicine, Etiology, Medical genetics, Family history, medicine.symptom, business, Genetics (clinical), Clinical psychology
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::e3f65e9095e78f6e6a2029af5006c172
https://doi.org/10.1002/(sici)1096-8628(19971112)72:4<468::aid-ajmg18>3.0.co;2-p -
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المؤلفون: Philip R. Fischer, Rani S. Gereige, David A. Cimino, David J. Aughton, Thomas W. Riggs, Vladimir Bzduch, Paul M. Fleiss, Gerald Weiss, Elaine Weiss
المصدر: Clinical Pediatrics. 34:621-624
مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, business.industry, Pediatrics, Perinatology and Child Health, medicine, medicine.symptom, business, Infant newborn, Congenital malaria, Malaria falciparum
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::2cd3cb669928e24c6318db2908464638
https://doi.org/10.1177/000992289503401115 -
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المؤلفون: Paul T. von Oeyen, James V. Higgins, David J. Aughton, Rex Schulz, Christine H. Comstock, Judith A. Johnson
المصدر: American Journal of Medical Genetics. 49:240-243
مصطلحات موضوعية: Male, congenital, hereditary, and neonatal diseases and abnormalities, medicine.medical_specialty, Disorders of Sex Development, Oligohydramnios, Prenatal diagnosis, Kidney, Ultrasonography, Prenatal, Pregnancy, medicine, Humans, Abnormalities, Multiple, Atrioventricular Septal Defect, Genetics (clinical), Multiple abnormalities, Fetus, Fetal Growth Retardation, Polydactyly, business.industry, Obstetrics, Heart Septal Defects, Infant, Newborn, nutritional and metabolic diseases, Syndrome, Anatomy, medicine.disease, Fetal Diseases, Smith–Lemli–Opitz syndrome, Male pseudohermaphroditism, Female, Dandy-Walker Syndrome, business