Melanie Leffler (Melanie Leffner)

Publication Activity (10 Years)

Years Active: 2022-2023
Publications (10 Years): 4

Top Topics

Mitochondrial Dna

Intellectual Disability

Top Venues

Clinical genetics

American journal of medical genetics. Part A

This page only lists publications with an associated author ORCID identifier.

Publications

Jacintha Luermans, Jane Fleming, Rosie O'Shea, Kristine Barlow-Stewart, Emma Elizabeth Palmer, Melanie Leffler
"We are not a typical family anymore": Exploring the experiences and support needs of fathers of children with Fragile X syndrome in Australia. American journal of medical genetics. Part A (2023)
Melanie Leffler, Louise Christie, Anna Hackett, Bruce Bennetts, Himanshu Goel, David J Amor, Greg B Peters, Michael J Field, Tracy Dudding
Further delineation of dosage-sensitive K/L mediated Xq28 duplication syndrome includes incomplete penetrance. Clinical genetics (2023)
Melanie Leffler, Louise Christie, Anna Hackett, Bruce Bennetts, Himanshu Goel, David J Amor, Greg B Peters, Michael J Field, Tracy Dudding
Further delineation of dosage-sensitive K/L mediated Xq28 duplication syndrome includes incomplete penetrance. Clinical genetics (2023)
Hannah Stamberger, David Crosiers, Ganna Balagura, Claudia Maria Bonardi, Anna Basu, Gaetano Cantalupo, Valentina Chiesa, Jakob Christensen, Bernardo Dalla Bernardina, Colin A Ellis, Francesca Furia, Fiona Gardiner, Camille Giron, Renzo Guerrini, Karl Martin Klein, Christian Korff, Hana Krijtova, Melanie Leffler, Holger Lerche, Gaetan Lesca, David Lewis-Smith, Carla Marini, Dragan Marjanovic, Laure Mazzola, Sarah McKeown Ruggiero, Fanny Mochel, Francis Ramond, Philipp S Reif, Aurélie Richard-Mornas, Felix Rosenow, Christian Schropp, Rhys Huw Thomas, Aglaia Vignoli, Yvonne Weber, Emma Elizabeth Palmer, Ingo Helbig, Ingrid Eileen Scheffer, Pasquale Striano, Rikke Steensjerre Moller, Elena Gardella, Sarah Weckhuysen
Natural History Study of STXBP1-Developmental and Epileptic Encephalopathy Into Adulthood. Neurology 99 (3) (2022)