Search Results - Steffann, Julie

Clinical Utility Gene Card for: incontinentia pigmenti by Fusco, Francesca, Pescatore, Alessandra, Steffann, Julie, Royer, Ghislaine, Bonnefont, Jean-Paul, Ursini, Matilde Valeria

Get full text Get full text Get full text

Novel CLDN1 Deletion Associated with Ichthyosis, Sclerosing Cholangitis and Acquired Alopecia by ALSAFRI, Maleha S., CHARBIT-HENRION, Fabienne, LACAILLE, Florence, BOURRAT, Emmanuelle, STEFFANN, Julie, HADJ-RABIA, Smail

Get full text Get full text Get full text

Parental mosaicism is a pitfall in preimplantation genetic diagnosis of dominant disorders by Steffann, Julie, Michot, Caroline, Borghese, Roxana, Baptista-Fernandes, Marcia, Monnot, Sophie, Bonnefont, Jean-Paul, Munnich, Arnold

Get full text Get full text Get full text

Clinical utility gene card: for incontinentia pigmenti by Fusco, Francesca, Pescatore, Alessandra, Steffann, Julie, Bonnefont, Jean-Paul, De Oliveira, Judite, Lioi, Maria Brigida, Ursini, Matilde Valeria

Get full text Get full text Get full text

Single-sperm analysis for recurrence risk assessment of spinal muscular atrophy by Burlet, Philippe, Gigarel, Nadine, Magen, Maryse, Drunat, Séverine, Benachi, Alexandra, Hesters, Laetitia, Munnich, Arnold, Bonnefont, Jean-Paul, Steffann, Julie

Get full text Get full text Get full text

Expanding the clinical spectrum of MTTF mutations by Barcia, Giulia, Assouline, Zahra, Pennisi, Alessandra, Steffann, Julie, Boddaert, Nathalie, Gitiaux, Cyril, Rötig, Agnès, Bonnefont, Jean-Paul, Munnich, Arnold

Get full text Get full text Get full text

Mitochondrial myopathy plus due to the variant m.586G > A in MT-TF by Barcia, Giulia, Assouline, Zahra, Pennisi, Alessandra, Steffann, Julie, Boddaert, Nathalie, Gitiaux, Cyril, Rötig, Agnès, Bonnefont, Jean-Paul, Munnich, Arnold

Get full text Get full text Get full text

Intrafamilial Variability in LPIN1-Related Rhabdomyolysis by Pons, Linda, Acquaviva-Bourdain, Cécile, Teyssedre, Sonia, Didier, Capucine, Veauville, Alice, Steffann, Julie, Gobin, Stéphanie, de Lonlay, Pascale, Guffon, Nathalie, Fouilhoux, Alain

Get full text Get full text

Segregation of mtDNA Throughout Human Embryofetal Development: m.3243A > G as a Model System by Monnot, Sophie, Gigarel, Nadine, Samuels, David C, Burlet, Philippe, Hesters, Laetitia, Frydman, Nelly, Frydman, René, Kerbrat, Violaine, Funalot, Benoit, Martinovic, Jelena, Benachi, Alexandra, Feingold, Josué, Munnich, Arnold, Bonnefont, Jean-Paul, Steffann, Julie

Get full text Get full text Get full text

Poor Correlations in the Levels of Pathogenic Mitochondrial DNA Mutations in Polar Bodies versus Oocytes and Blastomeres in Humans by Gigarel, Nadine, Hesters, Laetitia, Samuels, David C., Monnot, Sophie, Burlet, Philippe, Kerbrat, Violaine, Lamazou, Frédéric, Benachi, Alexandra, Frydman, René, Feingold, Josué, Rotig, Agnes, Munnich, Arnold, Bonnefont, Jean-Paul, Frydman, Nelly, Steffann, Julie

Get full text Get full text Get full text

Novel FARS2 variants in patients with early onset encephalopathy with or without epilepsy associated with long survival by Barcia, Giulia, Rio, Marlène, Assouline, Zahra, Zangarelli, Coralie, Roux, Charles-Joris, de Lonlay, Pascale, Steffann, Julie, Desguerre, Isabelle, Munnich, Arnold, Bonnefont, Jean-Paul, Boddaert, Nathalie, Rötig, Agnès, Metodiev, Metodi D., Ruzzenente, Benedetta

Get full text Get full text Get full text

Biallelic IARS2 mutations presenting as sideroblastic anemia by Barcia, Giulia, Pandithan, Dinusha, Ruzzenente, Benedetta, Assouline, Zahra, Pennisi, Alessandra, Ormieres, Clothilde, Besmond, Claude, Roux, Charles-Joris, Boddaert, Nathalie, Desguerre, Isabelle, Thorburn, David R., Bratkovic, Drago, Munnich, Arnold, Bonnefont, Jean-Paul, Rötig, Agnès, Steffann, Julie

Get full text Get full text Get full text

Large-Scale Deletions and SMADIP1 Truncating Mutations in Syndromic Hirschsprung Disease with Involvement of Midline Structures by Amiel, Jeanne, Espinosa-Parrilla, Yolanda, Steffann, Julie, Gosset, Philippe, Pelet, Anna, Prieur, Marguerite, Boute, Odile, Choiset, Agnès, Lacombe, Didier, Philip, Nicole, Le Merrer, Martine, Tanaka, Hajime, Till, Marianne, Touraine, Renaud, Toutain, Annick, Vekemans, Michel, Munnich, Arnold, Lyonnet, Stanislas

Get full text Get full text

ISSCR Guidelines for Stem Cell Research and Clinical Translation: The 2021 update by Lovell-Badge, Robin, Anthony, Eric, Barker, Roger A., Bubela, Tania, Brivanlou, Ali H., Carpenter, Melissa, Charo, R. Alta, Clark, Amander, Clayton, Ellen, Cong, Yali, Daley, George Q., Fu, Jianping, Fujita, Misao, Greenfield, Andy, Goldman, Steve A., Hill, Lori, Hyun, Insoo, Isasi, Rosario, Kahn, Jeffrey, Kato, Kazuto, Kim, Jin-Soo, Kimmelman, Jonathan, Knoblich, Jürgen A., Mathews, Debra, Montserrat, Nuria, Mosher, Jack, Munsie, Megan, Nakauchi, Hiromitsu, Naldini, Luigi, Naughton, Gail, Niakan, Kathy, Ogbogu, Ubaka, Pedersen, Roger, Rivron, Nicolas, Rooke, Heather, Rossant, Janet, Round, Jeff, Saitou, Mitinori, Sipp, Douglas, Steffann, Julie, Sugarman, Jeremy, Surani, Azim, Takahashi, Jun, Tang, Fuchou, Turner, Leigh, Zettler, Patricia J., Zhai, Xiaomei

Get full text Get full text Get full text