A long hypoxia-inducible factor 3 isoform 2 is a transcription activator that regulates erythropoietin von Tolonen, Jussi-Pekka, Heikkilä, Minna, Malinen, Marjo, Lee, Hang-Mao, Palvimo, Jorma J., Wei, Gong-Hong, Myllyharju, Johanna

Volltext

Reduced Bone Mass in Collagen Prolyl 4‐Hydroxylase P4ha1+/−; P4ha2−/− Compound Mutant Mice von Tolonen, Jussi‐Pekka, Salo, Antti M, Finnilä, Mikko, Aro, Ellinoora, Karjalainen, Emma, Ronkainen, Veli‐Pekka, Drushinin, Kati, Merceron, Christophe, Izzi, Valerio, Schipani, Ernestina, Myllyharju, Johanna

Volltext

Optical Genome Mapping Identifies a Second Xq27.1 Rearrangement Associated With Charcot–Marie–Tooth Neuropathy CMTX3 von Rahikkala, Elisa, Komulainen‐Ebrahim, Jonna, Tolonen, Jussi‐Pekka, Vorimo, Sandra, Suo‐Palosaari, Maria, Vieira, Päivi, Piispala, Johanna, Uusimaa, Johanna, Pylkäs, Katri, Mantere, Tuomo

Volltext

Medulloblastoma, macrocephaly, and a pathogenic germline PTEN variant: Cause or coincidence? von Tolonen, Jussi‐Pekka, Hekkala, Anne, Kuismin, Outi, Tuominen, Hannu, Suo‐Palosaari, Maria, Tynninen, Olli, Niinimäki, Riitta

Volltext

Use of psychiatric medications in schizophrenia and other psychoses in a general population sample von Nykänen, Salla, Puska, Virpi, Tolonen, Jussi-Pekka, Salo, Henri, Isohanni, Matti, Koponen, Hannu, Pirkola, Sami, Penttilä, Matti, Haapea, Marianne, Moilanen, Jani, Miettunen, Jouko, Jääskeläinen, Erika

Volltext

Detailed Analysis of ITPR1 Missense Variants Guides Diagnostics and Therapeutic Design von Tolonen, Jussi Pekka, Parolin Schnekenberg, Ricardo, McGowan, Simon, Sims, David, McEntagart, Meriel, Elmslie, Frances, Shears, Debbie, Stewart, Helen, Tofaris, George K., Dabir, Tabib, Morrison, Patrick J., Johnson, Diana, Hadjivassiliou, Marios, Ellard, Sian, Shaw‐Smith, Charles, Znaczko, Anna, Dixit, Abhijit, Suri, Mohnish, Sarkar, Ajoy, Harrison, Rachel E., Jones, Gabriela, Houlden, Henry, Ceravolo, Giorgia, Jarvis, Joanna, Williams, Jonathan, Shanks, Morag E., Clouston, Penny, Rankin, Julia, Blumkin, Lubov, Lerman‐Sagie, Tally, Ponger, Penina, Raskin, Salmo, Granath, Katariina, Uusimaa, Johanna, Conti, Hector, McCann, Emma, Joss, Shelagh, Blakes, Alexander J.M., Metcalfe, Kay, Kingston, Helen, Bertoli, Marta, Kneen, Rachel, Lynch, Sally Ann, Martínez Albaladejo, Inmaculada, Moore, Austen Peter, Jones, Wendy D., Becker, Esther B.E., Németh, Andrea H.

Volltext

Generation of Human iPSC-Derived Cerebellar Organoids von Tolonen, Jussi-Pekka, Apsley, Elizabeth J., van Essen, Max J., Becker, Esther B. E.

Volltext

Detailed Analysis of ITPR1 Missense Variants Guides Diagnostics and Therapeutic Design von Tolonen, Jussi Pekka, Parolin Schnekenberg, Ricardo, McGowan, Simon, Sims, David, McEntagart, Meriel, Elmslie, Frances, Shears, Debbie, Stewart, Helen, Tofaris, George K, Dabir, Tabib, Morrison, Patrick J, Johnson, Diana, Hadjivassiliou, Marios, Ellard, Sian, Shaw-Smith, Charles, Znaczko, Anna, Dixit, Abhijit, Suri, Mohnish, Sarkar, Ajoy, Harrison, Rachel E, Jones, Gabriela, Houlden, Henry, Ceravolo, Giorgia, Jarvis, Joanna, Williams, Jonathan, Shanks, Morag E, Clouston, Penny, Rankin, Julia, Blumkin, Lubov, Lerman-Sagie, Tally, Ponger, Penina, Raskin, Salmo, Granath, Katariina, Uusimaa, Johanna, Conti, Hector, McCann, Emma, Joss, Shelagh, Blakes, Alexander JM, Metcalfe, Kay, Kingston, Helen, Bertoli, Marta, Kneen, Rachel, Lynch, Sally Ann, Martínez Albaladejo, Inmaculada, Moore, Austen Peter, Jones, Wendy D, Genomics England Research Consortium, Becker, Esther BE, Németh, Andrea H

Volltext bestellen