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1Academic Journal
المؤلفون: Kilpatrick, Lisa A, Joshi, Shantanu H, O’Neill, Joseph, Kalender, Guldamla, Dillon, Andrea, Best, Karin M, Narr, Katherine L, Alger, Jeffry R, Levitt, Jennifer G, O’Connor, Mary J
مصطلحات موضوعية: Biochemistry and Cell Biology, Biomedical and Clinical Sciences, Biological Sciences, Epidemiology, Health Sciences, Pharmacology and Pharmaceutical Sciences, Neurosciences, Clinical Research, Pediatric, Brain Disorders, Behavioral and Social Science, Mental Health, Intellectual and Developmental Disabilities (IDD), Substance Misuse, Alcoholism, Alcohol Use and Health, Perinatal Period - Conditions Originating in Perinatal Period, Attention Deficit Hyperactivity Disorder (ADHD), Good Health and Well Being, Attention Deficit Disorder with Hyperactivity, Brain, Child, Female, Humans, Magnetic Resonance Imaging, Neuroimaging, Pregnancy, Prenatal Exposure Delayed Effects, Attention deficit hyperactivity disorder, Facial dysmorphology, Fetal alcohol spectrum disorders, Gyrification, Magnetic resonance imaging, Prenatal alcohol exposure, Medical and Health Sciences, Psychology and Cognitive Sciences, Substance Abuse, Biochemistry and cell biology, Pharmacology and pharmaceutical sciences
وصف الملف: application/pdf
URL الوصول: https://escholarship.org/uc/item/848176mm
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2Academic Journal
المؤلفون: Annalisa Cappella, Francesca Gaffuri, Josh Yang, Francesco Carlo Tartaglia, Riccardo Solazzo, Francesco Inchingolo, Gianluca Martino Tartaglia, Chiarella Sforza
المساهمون: A. Cappella, F. Gaffuri, J. Yang, F. Carlo Tartaglia, R. Solazzo, F. Inchingolo, G.M. Tartaglia, C. Sforza
مصطلحات موضوعية: imaging, three-dimensional, optical imaging, anthropometry, facial dysmorphology, cleft lip and palate, syndromic patient, 3D volumetric method, dentistry, cranio-facial anatomy, Settore BIO/16 - Anatomia Umana, Settore MED/28 - Malattie Odontostomatologiche
Relation: info:eu-repo/semantics/altIdentifier/wos/WOS:001305537700001; volume:13; issue:16; firstpage:1; lastpage:25; numberofpages:25; journal:JOURNAL OF CLINICAL MEDICINE; https://hdl.handle.net/2434/1088428
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3Academic Journal
المؤلفون: Lorel Breuer, Jacob R. Greenmyer, Ted Wilson
المصدر: Children, Vol 11, Iss 1, p 108 (2024)
مصطلحات موضوعية: fetal alcohol spectrum disorder (FASD), sensory processing disorders, facial dysmorphology, alcohol related neurodevelopmental disorder, prenatal alcohol exposure, Pediatrics, RJ1-570
Relation: https://www.mdpi.com/2227-9067/11/1/108; https://doaj.org/toc/2227-9067; https://doaj.org/article/3362795435274ba7b50aa61aae360508
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4Conference
المؤلفون: Alomar Adrover, Antònia, Morales, Araceli, Vellvé, Kilian, Porras Pérez, Antonio Reyes, Crispi Brillas, Fàtima, Linguraru, Marius, Piella Fenoy, Gemma, Sukno, Federico Mateo
مصطلحات موضوعية: Craniofacial morphology, 3D morphable model, Facial dysmorphology, Fetal reconstruction, Prenatal diagnosis
وصف الملف: application/pdf
Relation: Farinella GM, Radeva P, Braz J, Bouatouch K, editors. VISIGRAPP 2021: Proceedings of the 16th International Joint Conference on Computer Vision, Imaging and Computer Graphics Theory and Applications; 2021 Feb 8-10; Setúbal, Portugal. Setúbal: Scitepress; 2021. p. 615-24; info:eu-repo/grantAgreement/ES/2PN/TIN2017-90124-P; http://hdl.handle.net/10230/47625; http://dx.doi.org/10.5220/0010340306150624
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5Academic Journal
المؤلفون: Almeida, Laura, Andreu-Fernández, Vicente, Navarro-Tapia, Elisabet, Aras-López, Rosa, Serra-Delgado, Mariona, Martínez, Leopoldo, García-Algar, Oscar, Gómez-Roig, María Dolores
المساهمون: UAM. Departamento de Pediatría
مصطلحات موضوعية: alcohol consumption patterns, facial dysmorphology, fetal alcohol spectrum disorders, fetal alcohol syndrome, fetal growth restriction, models of fetal alcohol spectrum disorders, neurodevelopmental disorders, prenatal alcohol exposure, Medicina
وصف الملف: application/pdf
Relation: Frontiers in Pediatrics; http://doi.org/10.3389/fped.2020.00359; Gobierno de España. RD12/0026/0003; Gobierno de España. RD16/0022/0002; Gobierno de España. PI15/01179; Frontiers in Pediatrics 8.July (2020): 359; http://hdl.handle.net/10486/695060; 359-1; July; 359-27
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6Dissertation/ Thesis
المؤلفون: Cenková, Klára
المساهمون: Velemínská, Jana, Harnádková, Katarína
مصطلحات موضوعية: Autismus, dysmorfologie obličeje, PAS, biomarkery, antropometrie, Autism, facial dysmorphology, ASD, biomarkers, anthropometry
وصف الملف: application/pdf
Relation: http://hdl.handle.net/20.500.11956/187923; 243850
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7
المؤلفون: Jannie Dahl Hald, Signe Beck-Nielsen, Pernille Axel Gregersen, Hans Gjørup, Bente Langdahl
المصدر: Hald, J D, Beck-Nielsen, S, Gregersen, P A, Gjørup, H & Langdahl, B 2023, ' Pycnodysostosis in children and adults ', Bone, vol. 169, 116674 . https://doi.org/10.1016/j.bone.2023.116674
مصطلحات موضوعية: Histology, Cathepsin K gene, Physiology, Facial dysmorphology, Endocrinology, Diabetes and Metabolism, Pycnodysostosis, Acro-osteolysis, Osteosclerosis
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d4e2db663a0b2fc5ef59cfa35d2b1c5c
https://pure.au.dk/portal/da/publications/pycnodysostosis-in-children-and-adults(80ab3499-07fa-4df4-8b06-5218b759ec91).html -
8Academic Journal
المؤلفون: Nellaker, Christoffer, Alkuraya, Fowzan S., Baynam, Gareth, Bernier, Raphael A., Bernier, Francois P. J., Boulangerw, Vanessa, Brudno, Michael, Brunner, Han G., Clayton-Smith, Jill, Cogne, Benjamin, Dawkins, Hugh J. S., deVries, Bert B. A., Douzgou, Sofia, Dudding-Byth, Tracy, Eichler, Evan E., Ferlaino, Michael, Fieggen, Karen, Firth, Helen, FitzPatrick, David R., Gration, Dylan, Groza, Tudor, Haende, Melissa, Hallowel, Nina, Hamosh, Ada, Hehir-Kwa, Jayne, Hitz, Marc-Phillip, Hughes, Mark, Kini, Usha, Kleefstra, Tjitske, Kooy, R. Frank, Krawitz, Peter, Kury, Sebastien, Lees, Melissa, Lyon, Gholson J., Lyonnet, Stanislas, Marcadier, Julien L., Meyn, Stephen, Moslerova, Veronika, Politei, Juan M., Poulton, Cathryn C., Raymond, F. Lucy, Reijnders, Margot R. F., Robinson, Peter N., Romano, Corrado, Rose, Catherine M., Sainsbury, David C. G., Schofield, Lyn, Sutton, Vernon R., Tumovec, Marek, Van Dijck, Anke, Van Esch, Hilde, Wilkie, Andrew O.M.
المصدر: Nellaker , C , Alkuraya , F S , Baynam , G , Bernier , R A , Bernier , F P J , Boulangerw , V , Brudno , M , Brunner , H G , Clayton-Smith , J , Cogne , B , Dawkins , H J S , deVries , B B A , Douzgou , S , Dudding-Byth , T , Eichler , E E , Ferlaino , M , Fieggen , K , Firth , H , FitzPatrick , D R , Gration , D , Groza , T , Haende , M , ....
مصطلحات موضوعية: data sharing, phenotyping, patient information, data protection, rare disease, Faces, DE-NOVO MUTATIONS, FACIAL DYSMORPHOLOGY, MATCHMAKER EXCHANGE, RARE, PHENOTYPE, RECOGNITION, INDIVIDUALS, GENOTYPE, THERAPY, GENOMES
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9
المؤلفون: Ain, Noor U., Muhammad, Niaz, Dianatpour, Mehdi, Baroncelli, Marta, Iqbal, Muddassar, Fard, Mohammad A. F., Bukhari, Ihtisham, Ahmed, Sufian, Hajipour, Massoumeh, Tabatabaie, Zahra, Foroutan, Hamidreza, Nilsson, Ola, 1970, Faghihi, Mohammad A., Makitie, Outi, Naz, Sadaf
المصدر: Human Mutation. 42(1):89-101
مصطلحات موضوعية: Facial dysmorphology, Golgi, Iran, Pakistan, mucolipidosis, mucopolysaccharidosis
وصف الملف: print
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10Academic Journal
المؤلفون: O’Rawe, Jason A., Wu, Yiyang, Dörfel, Max J., Rope, Alan F., Billie Au, P.Y., Parboosingh, Jillian S., Moon, Sungjin, Kousi, Maria, Kosma, Konstantina, Smith, Christopher S., Tzeti, Maria, Schuette, Jane L., Hufnagel, Robert B., Prada, Carlos E., Martinez, Francisco, Orellana, Carmen, Crain, Jonathan, Caro-Llopis, Alfonso, Oltra, Silvestre, Monfort, Sandra, Jiménez-Barrón, Laura T., Swensen, Jeffrey, Ellingwood, Sara, Smith, Rosemarie, Fang, Han, Ospina, Sandra, Stegmann, Sander, Den Hollander, Nicolette, Mittelman, David, Highnam, Gareth, Robison, Reid, Yang, Edward, Faivre, Laurence, Roubertie, Agathe, Rivière, Jean-Baptiste, Monaghan, Kristin G., Wang, Kai, Davis, Erica E., Katsanis, Nicholas, Kalscheuer, Vera M., Wang, Edith H., Metcalfe, Kay, Kleefstra, Tjitske, Innes, A. Micheil, Kitsiou-Tzeli, Sophia, Rosello, Monica, Keegan, Catherine E., Lyon, Gholson J.
المصدر: instname:Universidad del Rosario
مصطلحات موضوعية: Abnormal Gait, Developmental Delay, Dystonia, Facial Dysmorphology, Intellectual Disability, Intergluteal Crease, Neurologic Features, Taf1, Transcription, Ginecología & otras especialidades médicas, Enfermedades genéticas en los niños, Anormalidades de los cromosomas sexuales en niños, E Box Protein, Protein, Tata Binding Protein Associated Factor, Transcription Factor, Unclassified Drug, Histone Acetyltransferase, Tata-Binding Protein Associated Factor 25 Kda, Transcription Factor Iid, Adolescent, Article, Child, Clinical Article, Clinical Assessment, Clinical Evaluation, Clinical Feature, Developmental Disorder, Down Regulation, Face Dysmorphia
وصف الملف: application/pdf
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11
المؤلفون: Sandestig, Anna, Gréen, Anna, Aronsson, Johan, Ellnebo-Svedlund, Katarina, Stefanova, Margarita
المصدر: Molecular Syndromology. 10(5):281-285
مصطلحات موضوعية: X-linked intellectual disability, Clinical heterogeneity, DLG3 nonsense mutation, Dysmorphology, Exome sequencing, Facial dysmorphology
وصف الملف: print
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12
المؤلفون: Marius George Linguraru, Fatima Crispi, Araceli Morales, Antònia Alomar, Federico M. Sukno, Kilian Vellvé, Gemma Piella, Antonio R. Porras
المصدر: VISIGRAPP (4: VISAPP)
مصطلحات موضوعية: Computer science, Facial dysmorphology, Prenatal diagnosis, 0102 computer and information sciences, 02 engineering and technology, Fetal reconstruction, 01 natural sciences, Computer graphics, 010201 computation theory & mathematics, Computer graphics (images), 0202 electrical engineering, electronic engineering, information engineering, Ultrasound imaging, 020201 artificial intelligence & image processing, Fetal face, 3D morphable model, Craniofacial morphology
وصف الملف: application/pdf
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13
المؤلفون: Laura Almeida, Vicente Andreu-Fernández, Elisabet Navarro-Tapia, Rosa Aras-López, Mariona Serra-Delgado, Leopoldo Martínez, Oscar García-Algar, María Dolores Gómez-Roig
المساهمون: UAM. Departamento de Pediatría
المصدر: Frontiers in Pediatrics, Vol 8 (2020)
Dipòsit Digital de la UB
Universidad de Barcelona
Frontiers in Pediatrics
Biblos-e Archivo. Repositorio Institucional de la UAM
instname
Biblos-e Archivo: Repositorio Institucional de la UAM
Universidad Autónoma de Madridمصطلحات موضوعية: Neurobiologia del desenvolupament, Medicina, Fetal alcohol syndrome, Alcohol, Fetal growth, Review, 030204 cardiovascular system & hematology, Bioinformatics, Alcoholisme en l'embaràs, Pediatrics, fetal growth restriction, 03 medical and health sciences, chemistry.chemical_compound, 0302 clinical medicine, 030225 pediatrics, medicine, Alcoholism in pregnancy, Spectrum disorder, Epigenetics, Developmental neurobiology, prenatal alcohol exposure, Creixement fetal, Pregnancy, Ethanol, business.industry, neurodevelopmental disorders, lcsh:RJ1-570, Cognition, facial dysmorphology, lcsh:Pediatrics, models of fetal alcohol spectrum disorders, medicine.disease, chemistry, Prenatal alcohol exposure, Pediatrics, Perinatology and Child Health, fetal alcohol spectrum disorders, alcohol consumption patterns, business, fetal alcohol syndrome
وصف الملف: application/pdf
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14
المؤلفون: Alomar Adrover, Antònia
مصطلحات موضوعية: Facial dysmorphology, Prenatal diagnosis, 3D morphable model, Fetal reconstruction, Craniofacial morphology
وصف الملف: application/pdf
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15Academic Journal
المؤلفون: Watson, Kathryn M., Eagan, Spencer L., Gorski, Jerome L.
المساهمون: Muzaffar, Arshad R., Health Sciences Research Day (2010 : University of Missouri), University of Missouri--Columbia. School of Medicine
مصطلحات موضوعية: facial dysmorphology, brain abnormality, Holoprosencephaly
وصف الملف: 1 page
Relation: University of Missouri--Columbia. Health Sciences Research Day; http://hdl.handle.net/10355/9365
الاتاحة: http://hdl.handle.net/10355/9365
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16
المؤلفون: Almeida-Toledano L, Andreu-Fernández V, Navarro-Tapia E, Aras-López R, Serra-Delgado M, Martínez-Sánchez L, García-Algar O, Gómez-Roig MD
المصدر: Frontiers in pediatrics
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instnameمصطلحات موضوعية: fetal growth restriction, neurodevelopmental disorders, fetal alcohol spectrum disorders, facial dysmorphology, alcohol consumption patterns, models of fetal alcohol spectrum disorders, fetal alcohol syndrome, prenatal alcohol exposure
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17
المؤلفون: Christoffer Nellåker, Fowzan S. Alkuraya, Gareth Baynam, Raphael A. Bernier, Francois P.J. Bernier, Vanessa Boulanger, Michael Brudno, Han G. Brunner, Jill Clayton-Smith, Benjamin Cogné, Hugh J.S. Dawkins, Bert B.A. deVries, Sofia Douzgou, Tracy Dudding-Byth, Evan E. Eichler, Michael Ferlaino, Karen Fieggen, Helen V. Firth, David R. FitzPatrick, Dylan Gration, Tudor Groza, Melissa Haendel, Nina Hallowell, Ada Hamosh, Jayne Hehir-Kwa, Marc-Phillip Hitz, Mark Hughes, Usha Kini, Tjitske Kleefstra, R Frank Kooy, Peter Krawitz, Sébastien Küry, Melissa Lees, Gholson J. Lyon, Stanislas Lyonnet, Julien L. Marcadier, Stephen Meyn, Veronika Moslerová, Juan M. Politei, Cathryn C. Poulton, F Lucy Raymond, Margot R.F. Reijnders, Peter N. Robinson, Corrado Romano, Catherine M. Rose, David C.G. Sainsbury, Lyn Schofield, Vernon R. Sutton, Marek Turnovec, Anke Van Dijck, Hilde Van Esch, Andrew O.M. Wilkie, The Minerva Consortium
المساهمون: Minerva Consortium, MUMC+: DA KG Polikliniek (9), RS: FHML non-thematic output
المصدر: Frontiers in Genetics
Frontiers in genetics
Frontiers in Genetics, 10:611. Frontiers Media S.A.
Frontiers in Genetics, Vol 10 (2019)
Frontiers in Genetics, 10مصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, phenotyping, lcsh:QH426-470, Emerging technologies, data sharing, Big data, GENOMES, rare disease, PHENOTYPE, THERAPY, Data governance, 03 medical and health sciences, 0302 clinical medicine, All institutes and research themes of the Radboud University Medical Center, FACIAL DYSMORPHOLOGY, RARE, Policy and Practice Reviews, Health care, medicine, Facial features, Genetics, Data Protection Act 1998, Faces, MATCHMAKER EXCHANGE, Genetics (clinical), Genetics & Heredity, data protection, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], Science & Technology, business.industry, Public health, RECOGNITION, Public good, Data science, patient information, 3. Good health, GENOTYPE, Data sharing, lcsh:Genetics, INDIVIDUALS, 030104 developmental biology, DE-NOVO MUTATIONS, 030220 oncology & carcinogenesis, Molecular Medicine, Human medicine, business, Life Sciences & Biomedicine, Consortium
وصف الملف: pdf; Electronic-eCollection; application/pdf
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18
المؤلفون: Mary J. O'Connor, Karin M. Best, Katherine L. Narr, Joseph O'Neill, Guldamla Kalender, Andrea Dillon, Jeffry R. Alger, Shantanu H. Joshi, Jennifer G. Levitt, Lisa A. Kilpatrick
المصدر: Drug and alcohol dependence
مصطلحات موضوعية: medicine.medical_specialty, animal structures, Facial dysmorphology, Neuroimaging, Audiology, Toxicology, behavioral disciplines and activities, Article, Attention deficit hyperactivity disorder, 03 medical and health sciences, Typically developing, 0302 clinical medicine, Pregnancy, mental disorders, medicine, Humans, Pharmacology (medical), 030212 general & internal medicine, Child, Gyrification, Fetal alcohol spectrum disorders, Pharmacology, medicine.diagnostic_test, business.industry, Brain, Magnetic resonance imaging, medicine.disease, Magnetic Resonance Imaging, Psychiatry and Mental health, Attention Deficit Disorder with Hyperactivity, Prenatal Exposure Delayed Effects, Prenatal alcohol exposure, Female, business, 030217 neurology & neurosurgery
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19
المؤلفون: Maria Kousi, Kay Metcalfe, Laura T. Jiménez-Barrón, Christopher Smith, Jane L. Schuette, Jean Baptiste Rivière, Sara Ellingwood, Erica E. Davis, Sander Stegmann, Alfonso Caro-Llopis, Maria Tzetis, David Mittelman, Sophia Kitsiou-Tzeli, Edith H. Wang, Vera M. Kalscheuer, A. Micheil Innes, Konstantina Kosma, Jillian S. Parboosingh, P.Y. Billie Au, Kristin G. Monaghan, Carlos E. Prada, Rosemarie Smith, Laurence Faivre, Sandra Monfort, Alan F. Rope, Jonathan Crain, Mónica Roselló, Yiyang Wu, Reid J. Robison, Jeffrey Swensen, Francisco Martínez, Max Dorfel, Carmen Orellana, Robert B. Hufnagel, Gareth Highnam, Kai Wang, Sungjin Moon, Tjitske Kleefstra, Edward Yang, Nicholas Katsanis, Sandra Ospina, Nicolette S. den Hollander, Catherine E. Keegan, Gholson J. Lyon, Jason O'Rawe, Silvestre Oltra, Han Fang, Agathe Roubertie
المصدر: Papai, G., Weil, P.A., Schultz, P., New insights into the function of transcription factor TFIID from recent structural studies (2011) Curr. Opin. Genet. Dev., 21, pp. 219-224
Repositorio EdocUR-U. Rosario
Universidad del Rosario
instacron:Universidad del Rosario
AMERICAN JOURNAL OF HUMAN GENETICS
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
instname
American Journal of Human Genetics, 97, 6, pp. 922-32
American Journal of Human Genetics, 97, 922-32
American Journal of Human Genetics, 97(6), 922-932
The American Journal of Human Geneticsمصطلحات موضوعية: Proband, Male, Gene Mutation, Neurologic Features, Developmental Disabilities, Intellectual Impairment, Inheritance Patterns, Intergluteal Crease, Tata-Binding Protein Associated Factors, E-Box Elements, Gene Duplication, Recessive Inheritance, Pathology, Genetics(clinical), Child, Gene knockdown, Clinical Article, Genetic Screening, Neurodegeneration, Pedigree, developmental delay, Dystonia, Child, Preschool, Priority Journal, dystonia, Transcription Factor Iid, Human, Disease Model, Article, Rna Sequence, Unclassified Drug, Histone Acetyltransferase, Intellectual Disability, Genetics, Humans, Family, Degenerative Disease, TATA-Binding Protein Associated Factors, Face Dysmorphia, Phenotypic Variation, School Child, Animal, Infant, Transcription Factor Tfiid, facial dysmorphology, medicine.disease, Tata-Binding Protein Associated Factor 25 Kda, Nerve Degeneration, Mutation, intergluteal crease, Single Nucleotide Polymorphism, Transcription Factor TFIID, Developmental Disorder, Transcription Factor, Facial Dysmorphology, Zebra Fish, Clinical Evaluation, Family Assessment, Abnormal Gait, Intellectual disability, neurologic features, Down Regulation, Global developmental delay, Preschool Child, Zebrafish, Tata Binding Protein Associated Factor, Genetics (clinical), Histone Acetyltransferases, Inheritance, Neurodegenerative Diseases, Neurologic Disease, Phenotype, intellectual disability, Muscle Hypotonia, transcription, Transcription, Genetic Association, Signal Transduction, Adolescent, E Box Element, Biology, Enfermedades genéticas en los niños, Young Adult, Report, medicine, Genetic Disorder, TAF1, Taf1, Animals, Gene, Developmental Delay, abnormal gait, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], Protein, Facies, Ginecología & otras especialidades médicas, Clinical Feature, biology.organism_classification, Disease Models, Animal, Metabolism, E Box Protein, Gene Expression Regulation, Clinical Assessment, Anormalidades de los cromosomas sexuales en niños
وصف الملف: application/pdf
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20Academic Journal
المؤلفون: Klingenberg, C. P., Wetherill, L., Rogers, J., Moore, E., Ward, R., Autti-Rämö, I., Fagerlund, Å, Jacobson, S. W., Robinson, L. K., Hoyme, H. E., Mattson, S. N., Li, T. K., Riley, E. P., Foroud, T.
المصدر: Klingenberg , C P , Wetherill , L , Rogers , J , Moore , E , Ward , R , Autti-Rämö , I , Fagerlund , Å , Jacobson , S W , Robinson , L K , Hoyme , H E , Mattson , S N , Li , T K , Riley , E P & Foroud , T 2010 , ' Prenatal alcohol exposure alters the patterns of facial asymmetry ' , Alcohol , vol. 44 , no. 7-8 , pp. 649-657 . https://doi.org/10.1016/j.alcohol.2009.10.016
مصطلحات موضوعية: Directional asymmetry, Discriminant function, Facial dysmorphology, Fetal alcohol syndrome, Procrustes superimposition
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