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Is Part Of Human mutation. Volume 39:Issue 12(2018)

12. Diagnosis of Li‐Fraumeni Syndrome: Differentiating TP53 germline mutations from clonal hematopoiesis: Results of the observational AGO‐TR1 trial. Issue 12 (3rd October 2018)

Authors:
Weber‐Lassalle, Konstantin; Harter, Philipp; Hauke, Jan; Ernst, Corinna; Kommoss, Stefan; Marmé, Frederik; Weber‐Lassalle, Nana; Prieske, Katharina; Dietrich, Dimo; Borde, Julika; Pohl‐Rescigno, Esther; Reuss, Alexander; Ataseven, Beyhan; Engel, Christoph; Stingl, Julia C.; Schmutzler, Rita K.; H...
Journal:
Human mutation
Issue:
Volume 39:Issue 12(2018)
Page Start:
2040
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

15. Hgvs: A Python package for manipulating sequence variants using HGVS nomenclature: 2018 Update. Issue 12 (5th September 2018)

Authors:
Wang, Meng; Callenberg, Keith M.; Dalgleish, Raymond; Fedtsov, Alexandre; Fox, Naomi K.; Freeman, Peter J.; Jacobs, Kevin B.; Kaleta, Piotr; McMurry, Andrew J.; Prlić, Andreas; Rajaraman, Veena; Hart, Reece K.
Journal:
Human mutation
Issue:
Volume 39:Issue 12(2018)
Page Start:
1803
Record Type:
Journal Article
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16. Hyaline fibromatosis syndrome: Clinical update and phenotype–genotype correlations. Issue 12 (17th September 2018)

Authors:
Casas‐Alba, Dídac; Martínez‐Monseny, Antonio; Pino‐Ramírez, Rosa M.; Alsina, Laia; Castejón, Esperanza; Navarro‐Vilarrubí, Sergi; Pérez‐Dueñas, Belén; Serrano, Mercedes; Palau, Francesc; García‐Alix, Alfredo
Journal:
Human mutation
Issue:
Volume 39:Issue 12(2018)
Page Start:
1752
Record Type:
Journal Article
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17. In vitro functional characterization of the novel DHH mutations p.(Asn337Lysfs*24) and p.(Glu212Lys) associated with gonadal dysgenesis. Issue 12 (22nd October 2018)

Authors:
Tajouri, Asma; Kharrat, Maher; Hizem, Syrine; Zaghdoudi, Hajer; M'rad, Ridha; Simic‐Schleicher, Gunter; Kaiser, Frank J.; Hiort, Olaf; Werner, Ralf
Journal:
Human mutation
Issue:
Volume 39:Issue 12(2018)
Page Start:
2097
Record Type:
Journal Article
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18. Inhibition of mitochondrial translation in fibroblasts from a patient expressing the KARS p.(Pro228Leu) variant and presenting with sensorineural deafness, developmental delay, and lactic acidosis. Issue 12 (3rd October 2018)

Authors:
Ruzzenente, Benedetta; Assouline, Zahra; Barcia, Giulia; Rio, Marlène; Boddaert, Nathalie; Munnich, Arnold; Rötig, Agnès; Metodiev, Metodi D.
Journal:
Human mutation
Issue:
Volume 39:Issue 12(2018)
Page Start:
2047
Record Type:
Journal Article
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19. Insights into the genotype‐phenotype correlation and molecular function of SLC25A46. Issue 12 (17th September 2018)

Authors:
Abrams, Alexander J.; Fontanesi, Flavia; Tan, Natalie B. L.; Buglo, Elena; Campeanu, Ion J.; Rebelo, Adriana P.; Kornberg, Andrew J.; Phelan, Dean G.; Stark, Zornitza; Zuchner, Stephan
Journal:
Human mutation
Issue:
Volume 39:Issue 12(2018)
Page Start:
1995
Record Type:
Journal Article
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20. Is evolutionary loss our gain? The role of ACTN3 p.Arg577Ter (R577X) genotype in athletic performance, ageing, and disease. Issue 12 (8th November 2018)

Authors:
Houweling, Peter J.; Papadimitriou, Ioannis D.; Seto, Jane T.; Pérez, Laura M.; Coso, Juan Del; North, Kathryn N.; Lucia, Alejandro; Eynon, Nir
Journal:
Human mutation
Issue:
Volume 39:Issue 12(2018)
Page Start:
1774
Record Type:
Journal Article
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