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by Hsieh, Tzung-Chien and Mensah, Martin A and Pantel, Jean T and Aguilar, Dione and Bar, Omri and Bayat, Allan and Becerra-Solano, Luis and Bentzen, Heidi B and Biskup, Saskia and Borisov, Oleg and Braaten, Oivind and Ciaccio, Claudia and Coutelier, Marie and Cremer, Kirsten and Danyel, Magdalena and Daschkey, Svenja and Eden, Hilda David and Devriendt, Koenraad and Wilson, Sandra and Douzgou, Sofia and Đukić, Dejan and Ehmke, Nadja and Fauth, Christine and Fischer-Zirnsak, Björn and Fleischer, Nicole and Gabriel, Heinz and Graul-Neumann, Luitgard and Gripp, Karen W and Gurovich, Yaron and Gusina, Asya and Haddad, Nechama and Hajjir, Nurulhuda and Hanani, Yair and Hertzberg, Jakob and Hoertnagel, Konstanze and Howell, Janelle and Ivanovski, Ivan and Kaindl, Angela and Kamphans, Tom and Kamphausen, Susanne and Karimov, Catherine and Kathom, Hadil and Keryan, Anna and Knaus, Alexej and Köhler, Sebastian and Kornak, Uwe and Lavrov, Alexander and Leitheiser, Maximilian and Lyon, Gholson J and Mangold, Elisabeth and Reina, Purificación Marín and Carrascal, Antonio Martinez and Mitter, Diana and Herrador, Laura Morlan and Nadav, Guy and Nöthen, Markus and Orrico, Alfredo and Ott, Claus-Eric and Park, Kristen and Peterlin, Borut and Pölsler, Laura and Raas-Rothschild, Annick and Randolph, Linda and Revencu, Nicole and Fagerberg, Christina Ringmann and Robinson, Peter Nick and Rosnev, Stanislav and Rudnik, Sabine and Rudolf, Gorazd and Schatz, Ulrich and Schossig, Anna and Schubach, Max and Shanoon, Or and Sheridan, Eamonn and Smirin-Yosef, Pola and Spielmann, Malte and Suk, Eun-Kyung and Sznajer, Yves and Thiel, Christian T and Thiel, Gundula and Verloes, Alain and Vrecar, Irena and Wahl, Dagmar and Weber, Ingrid and Winter, Korina and Wiśniewska, Marzena and Wollnik, Bernd and Yeung, Ming W and Zhao, Max and Zhu, Na and Zschocke, Johannes and Mundlos, Stefan and Horn, Denise and Krawitz, Peter M
Genetics in Medicine, ISSN 1098-3600, 2019
Phenotype information is crucial for the interpretation of genomic variants. So far it has only been accessible for bioinformatics workflows after encoding... 
dysmorphology | deep learning | exome diagnostics | variant prioritization | computer vision
Journal Article
Journal of pediatric surgery, ISSN 0022-3468, 05/2019
The role of sternal torsion (ST) in patients with pectus excavatum (PEX) is unknown. We evaluated the relationship between ST and both chest malformation and... 
Journal Article
Journal of Clinical and Diagnostic Research, ISSN 2249-782X, 01/2017, Volume 11, Issue 1, pp. ZD34 - ZD36
Journal Article
Current opinion in pediatrics, ISSN 1040-8703, 12/2018, Volume 30, Issue 6, pp. 701 - 706
Purpose of review The current review aims to discuss the incorporation of facial recognition software into the clinical practice of dysmorphology and medical... 
dysmorphology | PHENOTYPE | PEDIATRICS | facial recognition | genetic syndromes | MUTATIONS
Journal Article
Plastic and Reconstructive Surgery, ISSN 0032-1052, 09/2019, Volume 144, Issue 3, pp. 696 - 701
BACKGROUND:Ocular abnormalities in craniosynostosis are a persistent concern for patients and providers, and some surgeons feel that early surgical... 
UNILATERAL CORONAL SYNOSTOSIS | SURGERY | ENDOSCOPIC STRIP CRANIECTOMY | ORBITAL DYSMORPHOLOGY | STRABISMUS | CHILDREN
Journal Article
Archives of Disease in Childhood, ISSN 0003-9888, 10/2014, Volume 99, Issue 10, p. A279
Journal Article
Human Mutation, ISSN 1059-7794, 05/2012, Volume 33, Issue 5, pp. 817 - 825
Journal Article
European Journal of Medical Genetics, ISSN 1769-7212, 2018
Objective of the study: To give a full overview of the clinical presentation of PTEN mutations in pediatric patients and to propose a pediatric follow-up... 
Pediatric oncology | PTEN | Chiari I malformation | Dysmorphology | Neurodevelopmental disorders
Journal Article
Nucleic Acids Research, ISSN 0305-1048, 01/2014, Volume 42, Issue 1, pp. D993 - D1000
The DECIPHER database (https://decipher.sanger.ac.uk/) is an accessible online repository of genetic variation with associated phenotypes that facilitates the... 
DYSMORPHOLOGY | VARIANTS | ARRAY-CGH | BIOCHEMISTRY & MOLECULAR BIOLOGY | MICRODELETION SYNDROME | DEVELOPMENTAL DELAY | DELETIONS | Rare Diseases - genetics | Phenotype | Humans | Genotype | Internet | Genome, Human | Databases, Nucleic Acid | DNA Copy Number Variations | VI. Genomic variation, diseases and drugs
Journal Article
Cell, ISSN 0092-8674, 07/2014, Volume 158, Issue 2, pp. 263 - 276
Journal Article
Molecular Syndromology, ISSN 1661-8769, 01/2019, Volume 9, Issue 6, pp. 319 - 323
We report on a girl, born to first-cousin Lebanese parents, with severe intellectual disability, congenital hip luxation, cardiac malformation, short stature,... 
Short Report | Dysmorphology | Whole exome sequencing | Cerebellar ataxia
Journal Article
Plastic and Reconstructive Surgery, ISSN 0032-1052, 09/2019, Volume 144, Issue 3, pp. 704 - 709
BACKGROUND:Apert syndrome is frequently combined with respiratory insufficiency, because of the midfacial deformity which, in turn, is influenced by the... 
SURGERY | OBSTRUCTIVE SLEEP-APNEA | DYSMORPHOLOGY | CROUZON | CRANIAL BASE | MIDFACE | FACIAL GROWTH | VOLUME | MAXILLOMANDIBULAR ADVANCEMENT | CT-SCANS
Journal Article
Journal of Clinical and Diagnostic Research, ISSN 2249-782X, 09/2018, Volume 12, Issue 9, pp. QC05 - QC09
Journal Article
07/2009
Congenital anomalies occur in 3-5 % of all newborn children and represent a significant part of prenatal and infant mortality and morbidity. Although patients... 
dysmorphology | medical genetics | dismorfologija, genetički poremećaj, kongenitalne anomalije, medicinska genetika, OMIM, Orphanet | genetic disorders | OMIM | congenital anomalies | Orphanet
Web Resource
Archives of Disease in Childhood, ISSN 0003-9888, 11/2016, Volume 101, Issue 11, pp. 1073 - 1078
  Seven were excluded as they did not adequately define the key population (fetally diagnosed isolated TEV), either because apparent isolated TEV and 'complex'... 
Neonatology | Musculo-Skeletal | Dysmorphology | Evidence Based Medicine | Orthopaedics | Studies | Health risk assessment | Foot diseases
Journal Article