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Human Genome Epidemiology Literature Finder|Home|PHGKB

Human Genome Epidemiology Literature Finder


Last data update: Dec 5, 2024. (Total: 234130Documents)
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Records 1 - 4 (of 4 Records)

Query Trace: Astrocytoma and TSC2[original query]
Tuberous sclerosis complex: genotype/phenotype correlation of retinal findings.
Ophthalmology 2012 Sep 119 (9): 1917-23.
Aronow Mary E, Nakagawa Jo Anne, Gupta Ajay, Traboulsi Elias I, Singh Arun
Response to everolimus is seen in TSC-associated SEGAs and angiomyolipomas independent of mutation type and site in TSC1 and TSC2.
European journal of human genetics : EJHG 2015 Mar .
Kwiatkowski David J, Palmer Michael R, Jozwiak Sergiusz, Bissler John, Franz David, Segal Scott, Chen David, Sampson Julian
TSC2 pathogenic variants are predictive of severe clinical manifestations in TSC infants: results of the EPISTOP study.
Genetics in medicine : official journal of the American College of Medical Genetics 2020 5 22 (9): 1489-1497.
Ogórek Barbara, Hamieh Lana, Hulshof Hanna M, Lasseter Kathryn, Klonowska Katarzyna, Kuijf Hugo, Moavero Romina, Hertzberg Christoph, Weschke Bernhard, Riney Kate, Feucht Martha, Scholl Theresa, Krsek Pavel, Nabbout Rima, Jansen Anna C, Benova Barbora, Aronica Eleonora, Lagae Lieven, Curatolo Paolo, Borkowska Julita, Sadowski Krzysztof, Doma?ska-Pakie?a Dorota, Janson Stef, Kozlowski Piotr, Urbanska Malgorzata, Jaworski Jacek, Jozwiak Sergiusz, Jansen Floor E, Kotulska Katarzyna, , Kwiatkowski David
A multistep approach to the genotype-phenotype analysis of Polish patients with tuberous sclerosis complex.
European journal of medical genetics 2021 8 64 (10): 104309.
B?bol-Pokora Katarzyna, Bielska Marta, Bobeff Katarzyna, Jatczak-Pawlik Izabela, Borkowska Julita, Kotulska Katarzyna, Jó?wiak Sergiusz, M?ynarski Wojciech, Treli?ska Joan
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