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1
المؤلفون: Mian-Ling Zhong, Ye-Mei Song, Chao-Chun Zou
المصدر: JCRPE, Vol 13, Iss 1, Pp 109-113 (2021)
Journal of Clinical Research in Pediatric Endocrinologyمصطلحات موضوعية: China, Pediatrics, medicine.medical_specialty, Microcephaly, Language delay, Endocrinology, Diabetes and Metabolism, media_common.quotation_subject, growth retardation, Case Report, 6q25 microdeletion, lcsh:Diseases of the endocrine glands. Clinical endocrinology, Craniofacial Abnormalities, Facial dysmorphism, Endocrinology, Intellectual disability, medicine, Humans, Language Development Disorders, Girl, Growth Disorders, language delay, media_common, Low-set ears, lcsh:RC648-665, Growth retardation, business.industry, lcsh:RJ1-570, lcsh:Pediatrics, facial dysmorphism, medicine.disease, intellectual disability, Child, Preschool, Pediatrics, Perinatology and Child Health, Chromosomes, Human, Pair 6, Female, Chromosome Deletion, Differential diagnosis, medicine.symptom, business
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2
المصدر: Pediatric Hematology/Oncology and Immunopathology. 19:114-120
مصطلحات موضوعية: 0301 basic medicine, Coloboma, medicine.medical_specialty, Psychomotor retardation, business.industry, Immunology, Hematology, 030105 genetics & heredity, medicine.disease, Dermatology, 03 medical and health sciences, Skull, 030104 developmental biology, medicine.anatomical_structure, Oncology, Ptosis, Pediatrics, Perinatology and Child Health, Immunology and Allergy, Medicine, Jacobsen syndrome, medicine.symptom, Hypertelorism, business, Immunodeficiency, Low-set ears
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3
المؤلفون: Frédéric Bilan, Antonio Pizzuti, Madeleine Joubert, Claire Beneteau, Brigitte Gilbert-Dussardier, Laura Bernardini, Matthieu Egloff, Tanguy Niclass, Gwenaël Le Guyader, Maria Grazia Giuffrida
المصدر: American Journal of Medical Genetics Part A. 182:2133-2138
مصطلحات موضوعية: 0301 basic medicine, business.industry, Horseshoe kidney, Anatomy, 030105 genetics & heredity, Microdeletion syndrome, medicine.disease, Hydrocephalus, 03 medical and health sciences, 030104 developmental biology, Pectus excavatum, Genetics, Medicine, Syndactyly, Hypertelorism, medicine.symptom, business, Genetics (clinical), Ventriculomegaly, Low-set ears
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المؤلفون: Pooja Prabhakar Kamath
المصدر: International Journal of Recent Surgical and Medical Sciences, Vol 7, Iss 02, Pp 91-93 (2021)
مصطلحات موضوعية: Orthopedic surgery, medicine.medical_specialty, Clinodactyly, business.industry, otopalatodigital syndrome, Genetic counseling, Brachydactyly, syndactyly, medicine.disease, Dermatology, Pectus excavatum, orofaciodigital syndrome, medicine, Alveolar ridge, Syndactyly, medicine.symptom, Hypertelorism, business, RD701-811, Low-set ears
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المؤلفون: Jéssica Silva Soares, Renata Maria Rabello da Silva Lago, Maria Betânia Pereira Toralles, Laís Ribeiro Mota, Esmeralda Santos Alves, Acácia Fernandes Lacerda de Carvalho
المصدر: Archives of Endocrinology and Metabolism, Issue: ahead, Published: 22 NOV 2021
Archives of Endocrinology and Metabolism v.65 n.6 2021
Arquivos de Endocrinologia e Metabolismo
Sociedade Brasileira de Endocrinologia e Metabologia (SBEM)
instacron:SBEM
Archives of Endocrinology and Metabolism, Volume: 65, Issue: 6, Pages: 739-746, Published: 22 NOV 2021
Archives of Endocrinology and Metabolism, Vol 65, Iss 6, Pp 739-746 (2021)مصطلحات موضوعية: medicine.medical_specialty, Endocrinology, Diabetes and Metabolism, Turner syndrome, Cubitus valgus, Turner Syndrome, Polymerase Chain Reaction, Diseases of the endocrine glands. Clinical endocrinology, Chromosomes, medicine, FISH technique, Humans, Hypertelorism, Low-set ears, Gynecology, monosomy X, Mosaicism, business.industry, Chromosome, RC648-665, medicine.disease, Body Height, Lymphedema, Testis determining factor, PCR, mosaicism, Medicine, Webbed neck, Female, medicine.symptom, business
وصف الملف: text/html
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المؤلفون: Veeramani Preethish-Kumar, Gautham Arunachal, Mainak Bardhan, Karthik Kulanthaivelu, Priyanka Priyadarshini, Saraswati Nashi, Seena Vengalil, Gopikrishnan Unnikrishnan, Akshata Huddar, K. Polavarapu, Atchayaram Nalini, Hanns Lochmüller
المصدر: Children, Vol 8, Iss 909, p 909 (2021)
Childrenمصطلحات موضوعية: Pes cavus, business.industry, Facial weakness, Case Report, Anatomy, AMC, medicine.disease, contractures, Pediatrics, Hypotonia, RJ1-570, body regions, Ptosis, ECEL1, Pediatrics, Perinatology and Child Health, medicine, distal arthrogryposis, medicine.symptom, Hypertelorism, business, Kyphoscoliosis, Low-set ears, Muscle contracture, muscle MRI
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المؤلفون: Charles L. Dunn, Jeffrey J. Bidinger
المصدر: Pediatrics in review. 42(Suppl 2)
مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, Past medical history, Hearing loss, business.industry, medicine.disease, Pediatrics, Perinatology and Child Health, Pulmonary valve stenosis, medicine, Noonan syndrome, Sensorineural hearing loss, Birthmark, Hypertelorism, medicine.symptom, business, Low-set ears
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8
المصدر: IP Journal of Diagnostic Pathology and Oncology. 5:35-39
مصطلحات موضوعية: 0301 basic medicine, Pediatrics, medicine.medical_specialty, Down syndrome, Depressed nasal bridge, business.industry, Incidence (epidemiology), Robertsonian translocation, Chromosomal translocation, Short neck, 030105 genetics & heredity, medicine.disease, medicine.disease_cause, 03 medical and health sciences, 0302 clinical medicine, 030220 oncology & carcinogenesis, medicine, medicine.symptom, Trisomy, business, Low-set ears
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9
المصدر: Journal of molecular neuroscience : MN. 71(12)
مصطلحات موضوعية: Male, Pediatrics, medicine.medical_specialty, Neurology, Depressed nasal bridge, Adolescent, Mutation, Missense, Raine syndrome, Cellular and Molecular Neuroscience, symbols.namesake, medicine, Missense mutation, Dentition, Exophthalmos, Humans, Neurochemistry, Amelogenesis imperfecta, Abnormalities, Multiple, Low-set ears, Sanger sequencing, Extracellular Matrix Proteins, business.industry, Casein Kinase I, General Medicine, medicine.disease, Cleft Palate, Phenotype, symbols, Microcephaly, medicine.symptom, business, Osteosclerosis
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10
المؤلفون: Mohammad Ali Kazemi, Ahmad Reza Tahmasebpour, Behnaz Moradi
المصدر: Iranian Journal of Pediatrics. 30
مصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, Fetus, 030219 obstetrics & reproductive medicine, medicine.diagnostic_test, business.industry, Apert syndrome, 030105 genetics & heredity, medicine.disease, Craniosynostosis, Temporal lobe, 03 medical and health sciences, 0302 clinical medicine, Pediatrics, Perinatology and Child Health, medicine, Amniocentesis, Radiology, Syndactyly, medicine.symptom, Hypertelorism, business, Low-set ears
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11
المؤلفون: Abdullah Assani, Hala Sallah, Sarab Agha, Hamdi Nawfal, Muhamad Zakaria Brimo Alsaman, Rayan Badawi, Mohammad Nour Kitaz
المصدر: BMC Pregnancy and Childbirth, Vol 20, Iss 1, Pp 1-6 (2020)
BMC Pregnancy and Childbirthمصطلحات موضوعية: Cryptophthalmos, Case Report, Nose, lcsh:Gynecology and obstetrics, Ultrasonography, Prenatal, Gross examination, 03 medical and health sciences, Young Adult, 0302 clinical medicine, Intrahepatic biliary atresia, Biliary Atresia, Pregnancy, Cryptophthalmos syndrome, medicine, Humans, Abnormalities, Multiple, 030212 general & internal medicine, Syndactyly, Anophthalmia, Fraser syndrome, lcsh:RG1-991, Low-set ears, Syria, business.industry, Cesarean Section, Obstetrics and Gynecology, Cryptophthalmos Syndrome, Anophthalmos, Anatomy, Stillbirth, medicine.disease, 030221 ophthalmology & optometry, Female, medicine.symptom, business, Fraser Syndrome
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المؤلفون: Rabah M. Shawky, Radwa Gamal
المصدر: Egyptian Journal of Medical Human Genetics, Vol 19, Iss 4, Pp 429-432 (2018)
Egyptian Journal of Medical Human Genetics; Vol 19, No 4 (2018); 429-432مصطلحات موضوعية: 0301 basic medicine, Cantú syndrome, Hypertrichosis, medicine.medical_specialty, lcsh:R5-920, lcsh:QH426-470, business.industry, Long philtrum, Short neck, medicine.disease, Dermatology, High arched palate, 03 medical and health sciences, lcsh:Genetics, 030104 developmental biology, medicine.anatomical_structure, Ductus arteriosus, Anteverted nares, medicine, medicine.symptom, business, lcsh:Medicine (General), Cantu syndrome, Hypertrichosis, Coarse features, Genetics (clinical), Low-set ears
وصف الملف: application/pdf
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13
المؤلفون: Ahmed E. Shoman, Ola M. Eid, Amal M. Mohamed, Rana Mahrous, Engy A. Ashaat, Mona Aglan, Gabal Ms
المصدر: Gene Reports. 25:101386
مصطلحات موضوعية: Genetics, Microcephaly, medicine.diagnostic_test, Karyotype, Biology, medicine.disease, Chromosome 18, medicine, Global developmental delay, Multiplex ligation-dependent probe amplification, Hypertelorism, medicine.symptom, Fluorescence in situ hybridization, Low-set ears
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المؤلفون: Norberto López-Serna, Alfredo Nuñez-Castruita
المصدر: International Journal of Pediatric Otorhinolaryngology. 104:126-133
مصطلحات موضوعية: Male, 0301 basic medicine, medicine.medical_specialty, Abortion, Congenital Abnormalities, 03 medical and health sciences, Fetus, Pregnancy, Prevalence, Humans, Medicine, Statistical analysis, Ear, External, Head and neck, reproductive and urinary physiology, Low-set ears, business.industry, Obstetrics, Significant difference, Infant, Newborn, Ethics committee, General Medicine, Dissection, 030104 developmental biology, Otorhinolaryngology, embryonic structures, Pediatrics, Perinatology and Child Health, Female, Digestive tract, medicine.symptom, business
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15
المؤلفون: Dina Taimeh, Yazan Hassona, Crispian Scully, Lamis D. Rajab
المصدر: Medical Principles and Practice. 27:293-296
مصطلحات موضوعية: Microcephaly, Hypoparathyroidism, Dentistry, Case Report, Oral Health, Oligodontia, Osteochondrodysplasias, 03 medical and health sciences, 0302 clinical medicine, stomatognathic system, Seizures, 030202 anesthesiology, Intellectual Disability, Humans, Medicine, Abnormalities, Multiple, Maxillary central incisor, Child, Growth Disorders, Low-set ears, business.industry, Child Health, Mandible, 030206 dentistry, General Medicine, medicine.disease, stomatognathic diseases, Hypodontia, Female, Increased overjet, Deep overbite, medicine.symptom, business
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المؤلفون: Ji-Won Lee, Jae Young Lee, Myungshin Kim, Changhoon Jeong, Jisook Yim, Il-Jung Park
المصدر: Medicine. 100:e27346
مصطلحات موضوعية: Proband, Pathology, medicine.medical_specialty, Coarse facial features, business.industry, Nonsense mutation, Macrocephaly, Wilms' tumor, General Medicine, medicine.disease, Osteopathia striata, medicine, medicine.symptom, Hypertelorism, business, Low-set ears
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المؤلفون: Jesús María Hernández-Rivas, Juan Luis García, César Paz-y-Miño, Paola E. Leone, Stella D Verdezoto, Ana Proaño
المصدر: BMC Medical Genomics
BMC Medical Genomics, Vol 12, Iss 1, Pp 1-9 (2019)مصطلحات موضوعية: 0301 basic medicine, lcsh:Internal medicine, Microcephaly, lcsh:QH426-470, Ring chromosome, Chromosome Disorders, Case Report, 030105 genetics & heredity, Biology, Ring (chemistry), Short stature, 03 medical and health sciences, FISH, Genetics, medicine, Humans, Ring Chromosomes, lcsh:RC31-1245, Child, In Situ Hybridization, Fluorescence, Genetics (clinical), Low-set ears, inv dup del rearrangement, medicine.diagnostic_test, Karyotype, medicine.disease, Human genetics, lcsh:Genetics, 030104 developmental biology, Karyotyping, Cytogenetic Analysis, Female, Chromosomes, Human, Pair 4, medicine.symptom, 46,XX,r(4)(p16.3q35.2), Mosaic, Mapping array, Ring chromosome 4, Fluorescence in situ hybridization
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المؤلفون: Sina Aziz, Faryal Tahir, Laraib Malik, Jawad Ahmed, Farheen Malik
المصدر: Cureus
مصطلحات موضوعية: Hypertrichosis, medicine.medical_specialty, Microcephaly, Depressed nasal bridge, mtbs, Michelin tire baby syndrome, Dermatology, 030204 cardiovascular system & hematology, Asymptomatic, Pediatrics, 03 medical and health sciences, 0302 clinical medicine, medicine, Genetics, michelin tire baby syndrome, Hypertelorism, Low-set ears, congenital disorders, business.industry, General Engineering, Genodermatosis, medicine.disease, skin folds, medicine.symptom, business, 030217 neurology & neurosurgery
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المؤلفون: Qasim Mahmood, Birendra Rai, David R. Betts, Rizwan Khan
المصدر: Abstracts.
مصطلحات موضوعية: medicine.medical_specialty, business.industry, Obstetrics, Chromosomal translocation, Karyotype, Prenatal diagnosis, Chromosome 9, medicine.disease, Trisomy 9, Medicine, medicine.symptom, business, Trisomy, Low-set ears, Chromosome 13
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المؤلفون: Elena Nechita, Ghia Harrison, Alessandra Biagini, Hilary Greaney, Willie Reardon
المصدر: Abstracts.
مصطلحات موضوعية: Psychomotor learning, Arthrogryposis, Pediatrics, medicine.medical_specialty, medicine.diagnostic_test, business.industry, Physical examination, Short stature, Hypotonia, Failure to thrive, medicine, medicine.symptom, Hypertelorism, business, Low-set ears