Interstitial 12p deletion involving more than 40 genes in a patient with postnatal microcephaly, psychomotor delay, optic nerve atrophy, and facial dysmorphism()

por Hoppe, Anne, Heinemeyer, Jan, Klopocki, Eva, Graul-Neumann, Luitgard M., Spors, Birgit, Bittigau, Petra, Kaindl, Angela M.
Publicado 2014

Neurologic phenotypes associated with COL4A1/2 mutations: Expanding the spectrum of disease

por Zagaglia, Sara, Selch, Christina, Nisevic, Jelena Radic, Mei, Davide, Michalak, Zuzanna, Hernandez-Hernandez, Laura, Krithika, S., Vezyroglou, Katharina, Varadkar, Sophia M., Pepler, Alexander, Biskup, Saskia, Leão, Miguel, Gärtner, Jutta, Merkenschlager, Andreas, Jaksch, Michaela, Møller, Rikke S., Gardella, Elena, Kristiansen, Britta Schlott, Hansen, Lars Kjærsgaard, Vari, Maria Stella, Helbig, Katherine L., Desai, Sonal, Smith-Hicks, Constance L., Hino-Fukuyo, Naomi, Talvik, Tiina, Laugesaar, Rael, Ilves, Pilvi, Õunap, Katrin, Körber, Ingrid, Hartlieb, Till, Kudernatsch, Manfred, Winkler, Peter, Schimmel, Mareike, Hasse, Anette, Knuf, Markus, Heinemeyer, Jan, Makowski, Christine, Ghedia, Sondhya, Subramanian, Gopinath M., Striano, Pasquale, Thomas, Rhys H., Micallef, Caroline, Thom, Maria, Werring, David J., Kluger, Gerhard Josef, Cross, J. Helen, Guerrini, Renzo, Balestrini, Simona, Sisodiya, Sanjay M.
Publicado 2018