检索结果 - Sloan-Béna, Frédérique

Challenges in Clinical Diagnosis of Williams-Beuren Syndrome in Sub-Saharan Africans: Case Reports from Cameroon 由 Tekendo-Ngongang, Cedrik, Dahoun, Sophie, Nguefack, Seraphin, Gimelli, Stefania, Sloan-Béna, Frédérique, Wonkam, Ambroise

获取全文 获取全文 获取全文

Hyperinsulinism associated with GLUD1 mutation: allosteric regulation and functional characterization of p.G446V glutamate dehydrogenase 由 Luczkowska, Karolina, Stekelenburg, Caroline, Sloan-Béna, Frédérique, Ranza, Emmanuelle, Gastaldi, Giacomo, Schwitzgebel, Valérie, Maechler, Pierre

获取全文 获取全文 获取全文

Correction to: Hyperinsulinism associated with GLUD1 mutation: allosteric regulation and functional characterization of p.G446V glutamate dehydrogenase 由 Luczkowska, Karolina, Stekelenburg, Caroline, Sloan-Béna, Frédérique, Ranza, Emmanuelle, Gastaldi, Giacomo, Schwitzgebel, Valérie, Maechler, Pierre

获取全文 获取全文 获取全文

Karyotypic Flexibility of the Complex Cancer Genome and the Role of Polyploidization in Maintenance of Structural Integrity of Cancer Chromosomes 由 Raftopoulou, Christina, Roumelioti, Fani-Marlen, Dragona, Eleni, Gimelli, Stefanie, Sloan-Béna, Frédérique, Gorgoulis, Vasilis, Antonarakis, Stylianos E., Gagos, Sarantis

获取全文 获取全文 获取全文

A homozygous duplication of the FGG exon 8-intron 8 junction causes congenital afibrinogenemia. Lessons learned from the study of a large consanguineous Turkish family 由 Guipponi, Michel, Masclaux, Frédéric, Sloan-Béna, Frédérique, Di Sanza, Corinne, Özbek, Namik, Peyvandi, Flora, Menegatti, Marzia, Casini, Alessandro, Malbora, Baris, Neerman-Arbez, Marguerite

获取全文 获取全文 获取全文

Parental Imbalances Involving Chromosomes 15q and 22q May Predispose to the Formation of De Novo Pathogenic Microdeletions and Microduplications in the Offspring 由 Capra, Valeria, Mascelli, Samantha, Garrè, Maria Luisa, Nozza, Paolo, Vaccari, Carlotta, Bricco, Lara, Sloan-Béna, Frédérique, Gimelli, Stefania, Cuoco, Cristina, Gimelli, Giorgio, Tassano, Elisa

获取全文 获取全文 获取全文

Genotype-Phenotype Correlation of 2q37 Deletions Including NPPC Gene Associated with Skeletal Malformations 由 Tassano, Elisa, Buttgereit, Jens, Bader, Michael, Lerone, Margherita, Divizia, Maria Teresa, Bocciardi, Renata, Napoli, Flavia, Pala, Giovanna, Sloan-Béna, Frédérique, Gimelli, Stefania, Gimelli, Giorgio

获取全文 获取全文 获取全文

Single cell transcriptome in aneuploidies reveals mechanisms of gene dosage imbalance 由 Stamoulis, Georgios, Garieri, Marco, Makrythanasis, Periklis, Letourneau, Audrey, Guipponi, Michel, Panousis, Nikolaos, Sloan-Béna, Frédérique, Falconnet, Emilie, Ribaux, Pascale, Borel, Christelle, Santoni, Federico, Antonarakis, Stylianos E.

获取全文 获取全文 获取全文

Copy number variations in candidate genomic regions confirm genetic heterogeneity and parental bias in Hirschsprung disease 由 Lantieri, Francesca, Gimelli, Stefania, Viaggi, Chiara, Stathaki, Elissavet, Malacarne, Michela, Santamaria, Giuseppe, Grossi, Alice, Mosconi, Manuela, Sloan-Béna, Frédérique, Prato, Alessio Pini, Coviello, Domenico, Ceccherini, Isabella

获取全文 获取全文 获取全文

Decreased neural precursor cell pool in NADPH oxidase 2-deficiency: From mouse brain to neural differentiation of patient derived iPSC 由 Nayernia, Zeynab, Colaianna, Marilena, Robledinos-Antón, Natalia, Gutzwiller, Eveline, Sloan-Béna, Frédérique, Stathaki, Elisavet, Hibaoui, Yousef, Cuadrado, Antonio, Hescheler, Jürgen, Stasia, Marie-José, Saric, Tomo, Jaquet, Vincent, Krause, Karl-Heinz

获取全文 获取全文 获取全文

Bi‐allelic loss of ERGIC1 causes relatively mild arthrogryposis 由 Marconi, Caterina, Lemmens, Laure, Masclaux, Frédéric, Mattioli, Francesca, Fluss, Joël, Extermann, Philippe, Mendez, Purificacion, Leuchter, Russia Ha‐Vinh, Stathaki, Elissavet, Laurent, Sacha, Hammar, Eva, Vannier, Anne, Varvagiannis, Konstantinos, Guipponi, Michel, Sloan‐Bena, Frédérique, Blouin, Jean‐Louis, Abramowicz, Marc, Fokstuen, Siv

获取全文 获取全文 获取全文

The gene encoding the ketogenic enzyme HMGCS2 displays a unique expression during gonad development in mice 由 Bagheri-Fam, Stefan, Chen, Huijun, Wilson, Sean, Ayers, Katie, Hughes, James, Sloan-Bena, Frederique, Calvel, Pierre, Robevska, Gorjana, Puisac, Beatriz, Kusz-Zamelczyk, Kamila, Gimelli, Stefania, Spik, Anna, Jaruzelska, Jadwiga, Warenik-Szymankiewicz, Alina, Faradz, Sultana, Nef, Serge, Pié, Juan, Thomas, Paul, Sinclair, Andrew, Wilhelm, Dagmar

获取全文 获取全文 获取全文

Loss of function of the retinoid-related nuclear receptor (RORB) gene and epilepsy 由 Rudolf, Gabrielle, Lesca, Gaetan, Mehrjouy, Mana M, Labalme, Audrey, Salmi, Manal, Bache, Iben, Bruneau, Nadine, Pendziwiat, Manuela, Fluss, Joel, de Bellescize, Julitta, Scholly, Julia, Møller, Rikke S, Craiu, Dana, Tommerup, Niels, Valenti-Hirsch, Maria Paola, Schluth-Bolard, Caroline, Sloan-Béna, Frédérique, Helbig, Katherine L, Weckhuysen, Sarah, Edery, Patrick, Coulbaut, Safia, Abbas, Mohamed, Scheffer, Ingrid E, Tang, Sha, Myers, Candace T, Stamberger, Hannah, Carvill, Gemma L, Shinde, Deepali N, Mefford, Heather C, Neagu, Elena, Huether, Robert, Lu, Hsiao-Mei, Dica, Alice, Cohen, Julie S, Iliescu, Catrinel, Pomeran, Cristina, Rubenstein, James, Helbig, Ingo, Sanlaville, Damien, Hirsch, Edouard, Szepetowski, Pierre

获取全文 获取全文 获取全文