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Page 1
Homozygous and compound-heterozygous mutations in TGDS cause Catel-Manzke syndrome.
Ehmke N, Caliebe A, Koenig R, Kant SG, Stark Z, Cormier-Daire V, Wieczorek D, Gillessen-Kaesbach G, Hoff K, Kawalia A, Thiele H, Altmüller J, Fischer-Zirnsak B, Knaus A, Zhu N, Heinrich V, Huber C, Harabula I, Spielmann M, Horn D, Kornak U, Hecht J, Krawitz PM, Nürnberg P, Siebert R, Manzke H, Mundlos S. Ehmke N, et al. Among authors: zhu n. Am J Hum Genet. 2014 Dec 4;95(6):763-70. doi: 10.1016/j.ajhg.2014.11.004. Am J Hum Genet. 2014. PMID: 25480037 Free PMC article.
The genomic birthday paradox: how much is enough?
Krawitz P, Buske O, Zhu N, Brudno M, Robinson PN. Krawitz P, et al. Among authors: zhu n. Hum Mutat. 2015 Oct;36(10):989-97. doi: 10.1002/humu.22848. Epub 2015 Aug 20. Hum Mutat. 2015. PMID: 26239817
PEDIA: prioritization of exome data by image analysis.
Hsieh TC, Mensah MA, Pantel JT, Aguilar D, Bar O, Bayat A, Becerra-Solano L, Bentzen HB, Biskup S, Borisov O, Braaten O, Ciaccio C, Coutelier M, Cremer K, Danyel M, Daschkey S, Eden HD, Devriendt K, Wilson S, Douzgou S, Đukić D, Ehmke N, Fauth C, Fischer-Zirnsak B, Fleischer N, Gabriel H, Graul-Neumann L, Gripp KW, 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 GJ, Mangold E, Reina PM, Carrascal AM, Mitter D, Herrador LM, Nadav G, Nöthen M, Orrico A, Ott CE, Park K, Peterlin B, Pölsler L, Raas-Rothschild A, Randolph L, Revencu N, Fagerberg CR, Robinson PN, Rosnev S, Rudnik S, Rudolf G, Schatz U, Schossig A, Schubach M, Shanoon O, Sheridan E, Smirin-Yosef P, Spielmann M, Suk EK, Sznajer Y, Thiel CT, Thiel G, Verloes A, Vrecar I, Wahl D, Weber I, Winter K, Wiśniewska M, Wollnik B, Yeung MW, Zhao M, Zhu N, Zschocke J, Mundlos S, Horn D, Krawitz PM. Hsieh TC, et al. Among authors: zhu n. Genet Med. 2019 Dec;21(12):2807-2814. doi: 10.1038/s41436-019-0566-2. Epub 2019 Jun 5. Genet Med. 2019. PMID: 31164752 Free PMC article.
Clinical Manifestations.
Tort-Merino A, Pérez-Millan A, Martínez NF, Borrego-Écija S, Guillén N, Sarto J, Esteller D, Bosch B, Castellví M, Juncà-Parella J, Val-Guardiola A, Fernandez-Villullas G, Antonell A, Sánchez-Saudinós MB, Rubio-Guerra S, Zhu N, Martínez MG, Pozueta A, Estanga A, Ecay M, Lopez C, Tainta M, Altuna M, Rodríguez ER, Sanchez-Juan P, Martinez-Lage P, Lleo A, Fortea J, Illán-Gala I, Balasa M, Lladó A, Rami L, Sánchez-Valle R. Tort-Merino A, et al. Among authors: zhu n. Alzheimers Dement. 2024 Dec;20 Suppl 3:e087332. doi: 10.1002/alz.087332. Alzheimers Dement. 2024. PMID: 39750642
Clinical Manifestations.
Rubio-Guerra S, Sánchez-Saudinós MB, Sala I, Bejanin A, Estanga A, Ecay-Torres M, de Luis CL, Rami L, Tort-Merino A, Castellví M, Pozueta A, García-Martínez M, Gómez-Andrés D, Lage C, López-García S, Sánchez-Juan P, Balasa M, Lladó A, Altuna M, Tainta M, Arranz J, Zhu N, Alcolea D, Lleo A, Fortea J, Rodríguez ER, Sánchez-Valle R, Martínez-Lage P, Illán-Gala I. Rubio-Guerra S, et al. Among authors: zhu n. Alzheimers Dement. 2024 Dec;20 Suppl 3:e091523. doi: 10.1002/alz.091523. Alzheimers Dement. 2024. PMID: 39750489
Clinical Manifestations.
Selma-Gonzalez J, Sánchez-Saudinós MB, Sala I, Rubio-Guerra S, Castro JG, Zhu N, Arranz J, Rodríguez-Baz Í, Arriola-Infante JE, Maure-Blesa L, Fortea J, Alcolea D, Santos-Santos MA, Carmona-Iragui M, Lleo A, Illán-Gala I. Selma-Gonzalez J, et al. Among authors: zhu n. Alzheimers Dement. 2024 Dec;20 Suppl 3:e092573. doi: 10.1002/alz.092573. Alzheimers Dement. 2024. PMID: 39750242
2,780 results