Sibling recurrence of total anomalous pulmonary venous drainage
McDermott, J.H, Study, D.D.D, Clayton-Smith, J
Published in European journal of medical genetics (01.05.2017)
Published in European journal of medical genetics (01.05.2017)
Get full text
Journal Article
Mosaicism in ASXL3-related syndrome: Description of five patients from three families
Schirwani, Schaida, Hauser, Natalie, Platt, Anna, Punj, Sumit, Prescott, Katrina, Canham, Natalie, study, D.D.D., Mansour, Sahar, Balasubramanian, Meena
Published in European journal of medical genetics (01.06.2020)
Published in European journal of medical genetics (01.06.2020)
Get full text
Journal Article
The TBR1-related autistic-spectrum-disorder phenotype and its clinical spectrum
McDermott, J.H., Study, D.D.D., Clayton-Smith, J., Briggs, T.A.
Published in European journal of medical genetics (01.05.2018)
Published in European journal of medical genetics (01.05.2018)
Get full text
Journal Article
A novel PIGA variant associated with severe X-linked epilepsy and profound developmental delay
Low, Karen J., James, M., Sharples, P.M., Eaton, M., Jenkinson, S., Study, D.D.D., Smithson, S.F.
Published in Seizure (London, England) (01.03.2018)
Published in Seizure (London, England) (01.03.2018)
Get full text
Journal Article
Phenotypic and genetic spectrum of ATP6V1A encephalopathy: a disorder of lysosomal homeostasis
Guerrini, Renzo, Mei, Davide, Kerti-Szigeti, Katalin, Pepe, Sara, Koenig, Mary Kay, Von Allmen, Gretchen, Cho, Megan T, McDonald, Kimberly, Baker, Janice, Bhambhani, Vikas, Powis, Zöe, Rodan, Lance, Nabbout, Rima, Barcia, Giulia, Rosenfeld, Jill A, Bacino, Carlos A, Mignot, Cyril, Power, Lillian H, Harris, Catharine J, Marjanovic, Dragan, Møller, Rikke S, Hammer, Trine B, Keski Filppula, Riikka, Vieira, Päivi, Hildebrandt, Clara, Sacharow, Stephanie, Maragliano, Luca, Benfenati, Fabio, Lachlan, Katherine, Benneche, Andreas, Petit, Florence, de Sainte Agathe, Jean Madeleine, Hallinan, Barbara, Si, Yue, Wentzensen, Ingrid M, Zou, Fanggeng, Narayanan, Vinodh, Matsumoto, Naomichi, Boncristiano, Alessandra, la Marca, Giancarlo, Kato, Mitsuhiro, Anderson, Kristin, Barba, Carmen, Sturiale, Luisa, Garozzo, Domenico, Bei, Roberto, Masuelli, Laura, Conti, Valerio, Novarino, Gaia, Fassio, Anna
Published in Brain (London, England : 1878) (27.08.2022)
Published in Brain (London, England : 1878) (27.08.2022)
Get full text
Journal Article