المؤلفون: M. Susan LaTuga, Melissa D. Gans, Lisa Underland, Terry L. Levin

المصدر: NeoReviews. 19:e682-e685

مصطلحات موضوعية: medicine.medical_specialty, Rib cage, business.industry, Fontanelle, Radiography, Scaphocephaly, Rickets, Wrist, medicine.disease, Surgery, 03 medical and health sciences, Frontal Bossing, 0302 clinical medicine, medicine.anatomical_structure, 030225 pediatrics, Pediatrics, Perinatology and Child Health, Medicine, Gestation, 030212 general & internal medicine, business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::34ab8ace39c446f96e173b97430c2191Test
https://doi.org/10.1542/neo.19-11-e682Test

المؤلفون: Luciano Barreto Silva, Pâmella Recco Álvares, Priscila Prosini da Fonte, Fernando-Antônio Gomes, Ana-Paula Sobral, José Alcides Almeida de Arruda, Cleomar Donizeth Rodrigues, Márcia Maria Fonseca da Silveira

المصدر: Rodrigues, Cleomar ; Gomes, Fernando-Antônio ; Arruda, José A. ; Silva, Luciano ; Alvares, Pâmella ; da Fonte, Priscila ; Sobral, Ana-Paula ; Da Silveira, Márcia María Fonseca. Clinical and radiographic features of pycnodysostosis : a case report. En: Journal of Clinical and Experimental Dentistry, 9 10 2017: 1276-1281
RODERIC. Repositorio Institucional de la Universitat de Valéncia
instname
Journal of Clinical and Experimental Dentistry

مصطلحات موضوعية: medicine.medical_specialty, Oral Medicine and Pathology, medicine.diagnostic_test, Nasal bridge, business.industry, Radiography, Case Report, Physical examination, 030206 dentistry, Disease, Prominent cheeks, CIENCIAS MÉDICAS [UNESCO], medicine.disease, Dermatology, Midface hypoplasia, 03 medical and health sciences, Frontal Bossing, 0302 clinical medicine, UNESCO::CIENCIAS MÉDICAS, Pycnodysostosis, medicine, business, General Dentistry, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8c939ceb2440d7fe30ea4406c2f0bf4bTest
https://doi.org/10.4317/jced.54105Test

المؤلفون: Carolina Araujo Moreno, Denise P. Cavalcanti, Thereza Loureiro, Daniel R. Carvalho, Ana Carolina Esposito, Fernando Augusto Lima Marson, Erlane Marques Ribeiro, Maria Dora Jazmin Lacarrubba-Flores

المصدر: American journal of medical genetics. Part A. 176(9)

مصطلحات موضوعية: 0301 basic medicine, Male, Pediatrics, medicine.medical_specialty, Clubfoot, 030105 genetics & heredity, 03 medical and health sciences, Frontal Bossing, Pregnancy, Risk Factors, Genetics, medicine, Humans, Femur, Risk factor, Genetics (clinical), Discordant Twin, Pierre Robin Syndrome, business.industry, Long philtrum, Facies, Twins, Monozygotic, medicine.disease, Hypoplasia, Radiography, 030104 developmental biology, Phenotype, Agenesis, Female, Symptom Assessment, business, Brazil

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9a2ea214d9ceb15021ab2aa81d18d019Test
https://pubmed.ncbi.nlm.nih.gov/30070764Test

المؤلفون: T. Kikuchi, Hiromi Nyuzuki, Keisuke Nagasaki, Akihiko Saitoh, Sunao Sasaki, Gen Nishimura, Yohei Ogawa

المصدر: American journal of medical genetics. Part A. 176(3)

مصطلحات موضوعية: 0301 basic medicine, Male, media_common.quotation_subject, Nonsense, Nonsense mutation, DNA Mutational Analysis, Limb Deformities, Congenital, Dwarfism, 030105 genetics & heredity, Osteochondrodysplasias, Short stature, Craniofacial Abnormalities, 03 medical and health sciences, Frontal Bossing, Genetics, medicine, Humans, Genetic Predisposition to Disease, Genetics (clinical), Genetic Association Studies, media_common, Omodysplasia, Autosomal dominant omodysplasia, business.industry, Long philtrum, Facies, Infant, Anatomy, Humerus, Metacarpal Bones, medicine.disease, Robinow syndrome, Frizzled Receptors, Radiography, 030104 developmental biology, Phenotype, Codon, Nonsense, Urogenital Abnormalities, Cytogenetic Analysis, medicine.symptom, business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1814eb292d48469284385b32086c77dcTest
https://pubmed.ncbi.nlm.nih.gov/29383834Test

المؤلفون: Antonia Squarcella, Camilla Aliberti, Lucia Manganaro, Enrica Marchionni, Antonio Pizzuti, Antonella Giancotti, Valentina D'Ambrosio, Renato Torre

مصطلحات موضوعية: Adult, 0301 basic medicine, medicine.medical_specialty, Pediatrics, pfeiffer syndrome, Genetic counseling, Limb Deformities, Congenital, Gestational Age, Prenatal diagnosis, 030105 genetics & heredity, Diagnosis, Differential, Young Adult, 03 medical and health sciences, Frontal Bossing, 0302 clinical medicine, medicine, Humans, cloverleaf skull, Receptor, Fibroblast Growth Factor, Type 1, Receptor, Fibroblast Growth Factor, Type 2, Hypertelorism, Ultrasonography, 030219 obstetrics & reproductive medicine, prenatal diagnosis, business.industry, FGFR1, FGFR2, Skull, Ultrasound, Obstetrics and Gynecology, Acrocephalosyndactylia, medicine.disease, Magnetic Resonance Imaging, Surgery, Radiography, medicine.anatomical_structure, Karyotyping, Mutation, Pediatrics, Perinatology and Child Health, Pfeiffer syndrome, Female, medicine.symptom, business, Genetic diagnosis, Abortion, Eugenic

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d66a6c67f4221e273e10ec7da835ef29Test
http://hdl.handle.net/11573/907214Test

المؤلفون: Ursula Holder, Eleanor S. Click, Michael L. Cunningham, Anne V. Hing, Marianne L. Seto, Richard A. Hopper, Joseph S. Gruss, Kyle Vessey

المصدر: American Journal of Medical Genetics Part A. :1024-1032

مصطلحات موضوعية: Male, business.industry, Skull, Dysostosis, Syndrome, Anatomy, Synostosis, Craniosynostoses, medicine.disease, Sagittal plane, Craniosynostosis, Radiography, Frontal Bossing, Phenotype, medicine.anatomical_structure, Face, Genetics, Humans, Medicine, Female, Craniofacial, business, Genetics (clinical)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6e2199a216577beeef9e1125407f5f95Test
https://doi.org/10.1002/ajmg.a.32782Test

المؤلفون: J. R. Goodman, C. U. Robertson

المصدر: International Journal of Paediatric Dentistry. 3:151-156

مصطلحات موضوعية: Bone Diseases, Developmental, medicine.medical_specialty, Adolescent, business.industry, Skull, Anatomy, medicine.disease, Broad nasal bridge, Tooth Eruption, Surgery, Osteopathia striata, Radiography, Mouth opening, Frontal Bossing, Lateral excursion, medicine, Humans, Female, business, General Dentistry, Osteosclerosis, Anodontia, Genes, Dominant

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::96fa8bae2534ba3225b9eb17af8d2606Test
https://doi.org/10.1111/j.1365-263x.1993.tb00072.xTest

المؤلفون: Leila Samaras, Eliane Chouery, Joelle Abou-Ghoch, Rima Chédid, Dominique Chretien, Nadine Jalkh, André Mégarbané, Catherine Caillaud

المصدر: American Journal of Medical Genetics Part A. :3198-3201

مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Pediatrics, Developmental Disabilities, Telecanthus, Frontal Bossing, Internal medicine, Genetics, medicine, Humans, Hypertelorism, Long eyelashes, Genetics (clinical), hirsutism, business.industry, Infant, Newborn, Infant, Syndrome, medicine.disease, Skin Aging, Radiography, Developmental disorder, Fractures, Spontaneous, Endocrinology, medicine.anatomical_structure, Palpebral fissure, Abdomen, Female, medicine.symptom, business, Liver Failure

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1571a763fc9d87320185e43d56073f05Test
https://doi.org/10.1002/ajmg.a.32579Test

المؤلفون: A L Bueno, Joaquín Olivares, Feliciano J. Ramos, O. Bueno, ML Bello, Manuel Bueno

المصدر: Clinical Genetics. 54:400-405

مصطلحات موضوعية: Male, Hearing loss, Osteopathia striata, Frontal Bossing, Genetics, medicine, Humans, Abnormalities, Multiple, Craniofacial, Hypertelorism, Child, Genetics (clinical), Sclerosis, business.industry, Skull, Macrocephaly, Anatomy, medicine.disease, Osteochondrodysplasia, Pedigree, Radiography, medicine.anatomical_structure, Female, Bone Diseases, medicine.symptom, business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::81be29cb06d7ff544c47314c9b32bfbfTest
https://doi.org/10.1111/j.1399-0004.1998.tb03753.xTest

المؤلفون: David P. Tracer, Sihan Li, Peiying Zhang, Judith Perry, Philip R. Fischer, Weiping Xi, Mark A. Strand, Meimei Jin

المصدر: Pediatrics International. 49:202-209

مصطلحات موضوعية: Male, Rural Population, China, medicine.medical_specialty, Pediatrics, Cross-sectional study, Physical examination, Rickets, vitamin D deficiency, Frontal Bossing, Epidemiology, Prevalence, medicine, Humans, Longitudinal Studies, Vitamin D, Physical Examination, medicine.diagnostic_test, business.industry, Case-control study, Infant, Alkaline Phosphatase, medicine.disease, Radiography, Cross-Sectional Studies, Logistic Models, Case-Control Studies, Child, Preschool, Pediatrics, Perinatology and Child Health, Female, Seasons, business, Rachitic rosary

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d305567637dbbda99a08754a88781965Test
https://doi.org/10.1111/j.1442-200x.2007.02343.xTest