نتائج البحث - "Gundula Thiel"

1

Further evidence for complex inheritance of holoprosencephaly: Lessons learned from pre‐ and postnatal diagnostic testing in Germany

المؤلفون: Gundula Thiel, Ute Hehr, Rabih Chaoui, Tanja Roedl, Sophie Hinreiner, Dagmar Wieczorek, Ute Grasshoff, Dietmar Mueller

المصدر: American Journal of Medical Genetics Part C: Seminars in Medical Genetics. 178:198-205

مصطلحات موضوعية: Male, 0301 basic medicine, Nerve Tissue Proteins, 030105 genetics & heredity, Biology, medicine.disease_cause, DNA sequencing, 03 medical and health sciences, symbols.namesake, Holoprosencephaly, Pregnancy, Germany, Prenatal Diagnosis, Genetics, medicine, Humans, Microphthalmos, Hedgehog Proteins, Genetic Testing, Multiplex ligation-dependent probe amplification, Eye Proteins, Genetics (clinical), Genetic testing, Homeodomain Proteins, Sanger sequencing, Mutation, medicine.diagnostic_test, Brain, Facies, High-Throughput Nucleotide Sequencing, Nuclear Proteins, medicine.disease, Penetrance, Pedigree, Developmental disorder, Branchial Region, 030104 developmental biology, Chromosomes, Human, Pair 1, symbols, Female, Chromosome Deletion, Transcription Factors

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e48883890158bdaa8faf415ba262951b
https://doi.org/10.1002/ajmg.c.31625

2

Potential life-threatening complication of tonsillectomy: cervicofacial surgical emphysema

المؤلفون: Christopher Sg Thompson, Kirsten Shoemaker, Gundula Thiel, Rupali Sawant

المصدر: BMJ Case Rep

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::79d3f13c9e1dbbb23a509258b2e00fd3
https://pubmed.ncbi.nlm.nih.gov/30665932

Find this article in full text from ProQuest

3

PEDIA: Prioritization of Exome Data by Image Analysis

المؤلفون: Eamonn Sheridan, Alfredo Orrico, Ivan Ivanovski, Saskia Biskup, Alexej Knaus, Marzena Wiśniewska, Anna Keryan, Bernd Wollnik, Gundula Thiel, Gorazd Rudolf, Max Zhao, Malte Spielmann, Yaron Gurovich, Sandra Wilson, Uwe Kornak, Pola Smirin-Yosef, Yair Hanani, Christina Fagerberg, Christian Thiel, Peter N. Robinson, Diana Mitter, Annick Raas-Rothschild, Gholson J. Lyon, Na Zhu, Dagmar Wahl, Nechama Haddad, Claus-Eric Ott, Antonio Martinez Carrascal, Janelle Howell, Nadja Ehmke, Irena Vrecar, Purificación Marín Reina, Oleg V. Borisov, Konstanze Hoertnagel, Denise Horn, Nurulhuda Hajjir, Sabine Rudnik, Sebastian Köhler, Marie Coutelier, Nicole Revencu, Ingrid Weber, Stanislav Rosnev, Johannes Zschocke, Claudia Ciaccio, Or Shanoon, Nicole Fleischer, Anna Schossig, Luitgard Graul-Neumann, Guy Nadav, Dione Aguilar, Susanne B. Kamphausen, Markus M. Nöthen, Allan Bayat, Borut Peterlin, Heidi Beate Bentzen, Øivind Braaten, Eun Kyung Suk, Magdalena Danyel, Ming W. Yeung, Catherine Karimov, Angela M. Kaindl, Luis Becerra-Solano, Tzung-Chien Hsieh, Svenja Daschkey, Laura Morlan Herrador, Christine Fauth, Stefan Mundlos, Ulrich A. Schatz, Jean Tori Pantel, Alain Verloes, Heinz Gabriel, Kirsten Cremer, Alexander Lavrov, Karen W. Gripp, Martin A. Mensah, Kristen Park, Yves Sznajer, Jakob Hertzberg, Korina Winter, Max Schubach, Sofia Douzgou, Peter Krawitz, Hadil Kathom, Linda M. Randolph, Björn Fischer-Zirnsak, Maximilian Leitheiser, Tom Kamphans, Asya Gusina, Omri Bar, Hilda David Eden, Koenraad Devriendt, Dejan Đukić, Elisabeth Mangold, Laura Pölsler

المساهمون: UCL - SSS/IREC/SLUC - Pôle St.-Luc, UCL - (SLuc) Centre de génétique médicale UCL

المصدر: GENETICS IN MEDICINE
r-FISABIO. Repositorio Institucional de Producción Científica
instname
Hsieh, T C, Mensah, M A, Pantel, J T, Aguilar, D, Bar, O, Bayat, A, Becerra-Solano, L, Bentzen, H B, Biskup, S, Borisov, O, Braaten, O, Ciaccio, C, Coutelier, M, Cremer, K, Danyel, M, Daschkey, S, Eden, H D, Devriendt, K, Wilson, S, Douzgou, S, Đukić, D, Ehmke, N, Fauth, C, Fischer-Zirnsak, B, Fleischer, N, Gabriel, H, Graul-Neumann, L, Gripp, K W, Gurovich, Y, Gusina, A, Haddad, N, Hajjir, N, Hanani, Y, Hertzberg, J, Hoertnagel, K, Howell, J, Ivanovski, I, Kaindl, A, Kamphans, T, Kamphausen, S, Karimov, C, Kathom, H, Keryan, A, Knaus, A, Köhler, S, Kornak, U, Lavrov, A, Leitheiser, M, Lyon, G J, Fagerberg, C R, Robinson, P N, Rosnev, S, Rudnik, S, Rudolf, G, Schatz, U, Schossig, A, Schubach, M, Shanoon, O, Sheridan, E, Smirin-Yosef, P & Spielmann, M 2019, ' PEDIA : prioritization of exome data by image analysis ', Genetics in Medicine, vol. 21, no. 12, pp. 2807-2814 . https://doi.org/10.1038/s41436-019-0566-2
Genetics in medicine, Vol. 21, no.12, p. 2807-2814 (2019)
Genetics in Medicine

مصطلحات موضوعية: Male, 0301 basic medicine, Computer science, 030105 genetics & heredity, computer.software_genre, computer vision, Databases, Genetic, Image Processing, Computer-Assisted, Exome, Genetics (clinical), Exome sequencing, variant prioritization, 0303 health sciences, 030305 genetics & heredity, dysmorphology, Genomics, 3. Good health, Phenotype, Cohort, Medical genetics, Female, exome diagnostics, Algorithms, Natural language processing, deep learning, Prioritization, medicine.medical_specialty, Article, Image (mathematics), 03 medical and health sciences, Similarity (network science), Similarity (psychology), medicine, Humans, Gene, 030304 developmental biology, business.industry, Deep learning, Computational Biology, Sequence Analysis, DNA, 030104 developmental biology, Artificial intelligence, business, computer, Software