Novel CLDN1 Deletion Associated with Ichthyosis, Sclerosing Cholangitis and Acquired Alopecia

por ALSAFRI, Maleha S., CHARBIT-HENRION, Fabienne, LACAILLE, Florence, BOURRAT, Emmanuelle, STEFFANN, Julie, HADJ-RABIA, Smail
Publicado 2020

Expanding the clinical spectrum of MTTF mutations

por Barcia, Giulia, Assouline, Zahra, Pennisi, Alessandra, Steffann, Julie, Boddaert, Nathalie, Gitiaux, Cyril, Rötig, Agnès, Bonnefont, Jean-Paul, Munnich, Arnold
Publicado 2019

Mitochondrial myopathy plus due to the variant m.586G > A in MT-TF

por Barcia, Giulia, Assouline, Zahra, Pennisi, Alessandra, Steffann, Julie, Boddaert, Nathalie, Gitiaux, Cyril, Rötig, Agnès, Bonnefont, Jean-Paul, Munnich, Arnold
Publicado 2019

Should Preimplantation Genetic Testing (PGT) Systematically Be Proposed to BRCA Pathogenic Variant Carriers?

por Laot, Lucie, Sonigo, Charlotte, Nobre, Julie, Benachi, Alexandra, Dervin, Traicie, El Moujahed, Lina, Mayeur, Anne, Stoppa-Lyonnet, Dominique, Steffann, Julie, Grynberg, Michael
Publicado 2022

Bothnian Palmoplantar Keratoderma: Further Delineation of the Associated Phenotype

por Fertitta, Laura, Charbit-Henrion, Fabienne, Leclerc-Mercier, Stéphanie, Nguyen-Khoa, Thao, Baran, Robert, Alby, Caroline, Steffann, Julie, Sermet-Gaudelus, Isabelle, Hadj-Rabia, Smail
Publicado 2022

Novel ELAC2 Mutations in Individuals Presenting with Variably Severe Neurological Disease in the Presence or Absence of Cardiomyopathy

por Cafournet, Cérane, Zanin, Sofia, Guimier, Anne, Hully, Marie, Assouline, Zahra, Barcia, Giulia, de Lonlay, Pascale, Steffann, Julie, Munnich, Arnold, Bonnefont, Jean-Paul, Rötig, Agnès, Ruzzenente, Benedetta, Metodiev, Metodi D.
Publicado 2023

Segregation of mtDNA Throughout Human Embryofetal Development: m.3243A > G as a Model System

por 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
Publicado 2011

Biallelic IARS2 mutations presenting as sideroblastic anemia

por 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
Publicado 2021

Insights into the expanding intestinal phenotypic spectrum of SOCS1 haploinsufficiency and therapeutic options

por Rodari, Marco M., Cazals-Hatem, Dominique, Uzzan, Mathieu, Martin Silva, Nicolas, Khiat, Anis, Ta, Minh Chau, Lhermitte, Ludovic, Touzart, Aurore, Hanein, Sylvain, Rouillon, Cléa, Joly, Francisca, Elmorjani, Adrienne, Steffann, Julie, Cerf-Bensussan, Nadine, Parlato, Marianna, Charbit-Henrion, Fabienne
Publicado 2023

ISSCR Guidelines for Stem Cell Research and Clinical Translation: The 2021 update

por 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
Publicado 2021