A new intellectual disability syndrome caused by CTNNB1 haploinsufficiency von Dubruc, Estelle, Putoux, Audrey, Labalme, Audrey, Rougeot, Christelle, Sanlaville, Damien, Edery, Patrick

Volltext

Response of Brain and Meningeal Metastases to Trastuzumab-Deruxtecan in a Patient with HER2-Low Breast Cancer: A Case Report von Wolf, Benita, Dunet, Vincent, Dubruc, Estelle, Dolcan, Ana, Nicod Lalonde, Marie, Schiappacasse, Luis, Zaman, Khalil

Volltext

Neonatal Hemochromatosis: Diagnostic Work-Up Based on a Series of 56 Cases of Fetal Death and Neonatal Liver Failure von Heissat, Sophie, MD, Collardeau-Frachon, Sophie, MD, PhD, Baruteau, Julien, MD, Dubruc, Estelle, MD, Bouvier, Raymonde, MD, Fabre, Monique, MD, Cordier, Marie Pierre, MD, Broué, Pierre, MD, Guigonis, Vincent, MD, PhD, Debray, Dominique, MD, PhD

Volltext

Second-Trimester Miscarriage in a Pregnant Woman With SARS-CoV-2 Infection von Baud, David, Greub, Gilbert, Favre, Guillaume, Gengler, Carole, Jaton, Katia, Dubruc, Estelle, Pomar, Léo

Volltext

Secondary pulmonary alveolar proteinosis treated by lung transplant: A case report von Lawi, David, Dubruc, Estelle, Gonzalez, Michel, Aubert, John-David, Soccal, Paola M., Janssens, Jean-Paul

Volltext

SARS-CoV-2 ACE-receptor detection in the placenta throughout pregnancy von Gengler, Carole, Dubruc, Estelle, Favre, Guillaume, Greub, Gilbert, de Leval, Laurence, Baud, David

Volltext

Hierarchical graph representations in digital pathology von Pati, Pushpak, Jaume, Guillaume, Foncubierta-Rodríguez, Antonio, Feroce, Florinda, Anniciello, Anna Maria, Scognamiglio, Giosue, Brancati, Nadia, Fiche, Maryse, Dubruc, Estelle, Riccio, Daniel, Di Bonito, Maurizio, De Pietro, Giuseppe, Botti, Gerardo, Thiran, Jean-Philippe, Frucci, Maria, Goksel, Orcun, Gabrani, Maria

Volltext

Prenatal Diagnosis of Gómez-López-Hernández Syndrome von Pomar, Leo, Rieder, Wawrzyniec, Dubruc, Estelle, Giuliano, Fabienne, Atallah, Isis, Lebon, Sébastien, Vial, Yvan

Volltext

Recurrent Increased Nuchal Translucency Led to the Identification of Novel NUP107 Variants von Atallah, Isis, Cisarova, Katarina, Guenot, Cécile, Dubruc, Estelle, Superti-Furga, Andrea, Campos-Xavier, Belinda, Unger, Sheila

Volltext

Breakpoint mapping by next generation sequencing reveals causative gene disruption in patients carrying apparently balanced chromosome rearrangements with intellectual deficiency a... von Schluth-Bolard, Caroline, Labalme, Audrey, Cordier, Marie-Pierre, Till, Marianne, Nadeau, Gwenaël, Tevissen, Hélène, Lesca, Gaétan, Boutry-Kryza, Nadia, Rossignol, Sylvie, Rocas, Delphine, Dubruc, Estelle, Edery, Patrick, Sanlaville, Damien

Volltext

Gestational trophoblastic neoplasms (GTNs) do not display epithelial-to-mesenchymal transition (EMT) features von Dubruc, Estelle, Allias, Fabienne, Morel, Anne Pierre, Golfier, François, Puisieux, Alain, Devouassoux-Shisheboran, Mojgan

Volltext

Placental histological lesions in fetal and neonatal alloimmune thrombocytopenia: A retrospective cohort study of 21 cases von Dubruc, Estelle, Lebreton, Frédérique, Giannoli, Catherine, Rabilloud, Muriel, Huissoud, Cyril, Devouassoux-Shisheboran, Mojgan, Allias, Fabienne

Volltext

Cytological features of uterine tumors resembling ovarian sex‐cord tumors in liquid‐based cervical cytology: a potential pitfall. Report of a unique and rare case von Dubruc, Estelle, Alvarez Flores, Maria Teresa, Bernier, Yannick, Gherasimiuc, Lucia, Ponti, Alexandre, Mathevet, Patrice, Bongiovanni, Massimo

Volltext

Prenatal diagnosis of Aicardi syndrome based on a suggestive imaging pattern: A multicenter case‐series von Pomar, Léo, Ochoa, José, Cabet, Sara, Huisman, Thierry A. G. M., Paladini, Dario, Klaritsch, Philipp, Galmiche, Aurore, Prayer, Florian, Gacio, Sebastián, Haratz, Karina, Malinger, Gustavo, Van Mieghem, Tim, Baud, David, Bromley, Bryann, Lebon, Sébastien, Dubruc, Estelle, Vial, Yvan, Guibaud, Laurent

Volltext

Relevance of C5b9 immunostaining in the diagnosis of neonatal hemochromatosis von Dubruc, Estelle, Nadaud, Béatrice, Ruchelli, Eduardo, Heissat, Sophie, Baruteau, Julien, Broué, Pierre, Debray, Dominique, Cordier, Marie-Pierre, Miossec, Pierre, Russo, Pierre, Collardeau-Frachon, Sophie

Volltext

Mutated and amplified NRAS in a subset of cutaneous melanocytic lesions with dermal spitzoid morphology: report of two pediatric cases located on the ear von Dubruc, Estelle, Balme, Brigitte, Dijoud, Frédérique, Disant, Francois, Thomas, Luc, Wang, Qing, Pissaloux, Daniel, de la Fouchardiere, Arnaud

Volltext

Hierarchical graph representations in digital pathology von Pati, Pushpak, Jaume, Guillaume, Foncubierta-Rodriguez, Antonio, Feroce, Florinda, Anniciello, Anna Maria, Scognamiglio, Giosue, Brancati, Nadia, Fiche, Maryse, Dubruc, Estelle, Riccio, Daniel, Di Bonito, Maurizio, De Pietro, Giuseppe, Botti, Gerardo, Thiran, Jean-Philippe, Frucci, Maria, Göksel, Orcun, Gabrani, Maria

Volltext bestellen

Prenatal Diagnosis of Gómez-López-Hernández Syndrome von Pomar, Leo, Rieder, Wawrzyniec, Dubruc, Estelle, Giuliano, Fabienne, Atallah, Isis, Lebon, Sébastien, Vial, Yvan

Volltext

Hierarchical Graph Representations in Digital Pathology von Pati, Pushpak, Jaume, Guillaume, Foncubierta, Antonio, Feroce, Florinda, Anniciello, Anna Maria, Scognamiglio, Giosuè, Brancati, Nadia, Fiche, Maryse, Dubruc, Estelle, Riccio, Daniel, Di Bonito, Maurizio, De Pietro, Giuseppe, Botti, Gerardo, Thiran, Jean-Philippe, Frucci, Maria, Goksel, Orcun, Gabrani, Maria

Volltext bestellen

Secondary pulmonary alveolar proteinosis treated by lung transplant: A case report von Lawi, David, Dubruc, Estelle, Gonzalez, Michel, Aubert, John-David, Soccal, Paola M, Janssens, Jean-Paul

Volltext