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HCN1 mutation spectrum: from neonatal epileptic encephalopathy to benign generalized epilepsy and beyond.
Published in:
2018
By:
- Marini, Carla;
- Porro, Alessandro;
- Rastetter, Agnès;
- Dalle, Carine;
- Rivolta, Ilaria;
- Bauer, Daniel;
- Oegema, Renske;
- Nava, Caroline;
- Parrini, Elena;
- Mei, Davide;
- Mercer, Catherine;
- Dhamija, Radhika;
- Chambers, Chelsea;
- Coubes, Christine;
- Thévenon, Julien;
- Kuentz, Paul;
- Julia, Sophie;
- Pasquier, Laurent;
- Dubourg, Christèle;
- Carré, Wilfrid
Publication type:
journal article
Growth charts in DYRK1A syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 1, p. 9, doi. 10.1002/ajmg.a.63412
By:
- Lanvin, Pierre‐Louis;
- Goronflot, Thomas;
- Isidor, Bertrand;
- Nizon, Mathilde;
- Durand, Benjamin;
- El Chehadeh, Salima;
- Geneviève, David;
- Ruault, Valentin;
- Fradin, Mélanie;
- Pasquier, Laurent;
- Thévenon, Julien;
- Delobel, Bruno;
- Burglen, Lydie;
- Afenjar, Alexandra;
- Faivre, Laurence;
- Francannet, Christine;
- Guerrot, Anne‐Marie;
- Goldenberg, Alice;
- Mercier, Sandra;
- Héron, Delphine
Publication type:
Article
Pericentric heterochromatin reprogramming by new histone variants during mouse spermiogenesis.
Published in:
Journal of Cell Biology, 2007, v. 176, n. 3, p. 283, doi. 10.1083/jcb.200604141
By:
- Govin, Jérôme;
- Escoffier, Emmanuelle;
- Rousseaux, Sophie;
- Kuhn, Lauriane;
- Ferro, Myriam;
- Thévenon, Julien;
- Catena, Raffaella;
- Davidson, Irwin;
- Garin, Jérôme;
- Khochbin, Saadi;
- Caron, Cécile
Publication type:
Article
High Activation of the AKT Pathway in Human Multicystic Renal Dysplasia.
Published in:
Pathobiology, 2020, v. 87, n. 5, p. 302, doi. 10.1159/000509152
By:
- Apostolou, Alexia;
- Poreau, Brice;
- Delrieu, Loris;
- Thévenon, Julien;
- Jouk, Pierre-Simon;
- Lallemand, Guillaume;
- Emadali, Anouk;
- Sartelet, Herve
Publication type:
Article
Identification of kinesin family member (KIF22) homozygous variants in spondyloepimetaphyseal dysplasia with joint laxity, lepdodactylic type and demonstration of proteoglycan biosynthesis impairment.
Published in:
Journal of Bone & Mineral Research, 2024, v. 39, n. 3, p. 287, doi. 10.1093/jbmr/zjad020
By:
- Dubail, Johanne;
- Rondeau, Sophie;
- Michot, Caroline;
- Baujat, Geneviève;
- Capri, Yline;
- Thévenon, Julien;
- Charpie, Maelle;
- Pejin, Zagorka;
- Phan, Gilles;
- Huber, Céline;
- Cormier-Daire, Valérie
Publication type:
Article

Found: 5

HCN1 mutation spectrum: from neonatal epileptic encephalopathy to benign generalized epilepsy and beyond.

Growth charts in DYRK1A syndrome.

Pericentric heterochromatin reprogramming by new histone variants during mouse spermiogenesis.

High Activation of the AKT Pathway in Human Multicystic Renal Dysplasia.

Identification of kinesin family member (KIF22) homozygous variants in spondyloepimetaphyseal dysplasia with joint laxity, lepdodactylic type and demonstration of proteoglycan biosynthesis impairment.