Results
|
|
1.
|
|
|
|
2.
|
|
|
|
3.
|
Infantile hypokinetic-hypotonic syndrome due to two novel mutations of the tyrosine hydroxylase gene. [electronic resource] by
- Doummar, Diane
- Clot, Fabienne
- Vidailhet, Marie
- Afenjar, Alexandra
- Durr, Alexandra
- Brice, Alexis
- Mignot, Cyril
- Guet, Agnès
- de Villemeur, Thierry Billette
- Rodriguez, Diana
Producer: 20090729
In:
Movement disorders : official journal of the Movement Disorder Society vol. 24
Availability: No items available.
|
|
|
4.
|
DYRK1A mutations in two unrelated patients. [electronic resource] by
- Ruaud, Lyse
- Mignot, Cyril
- Guët, Agnès
- Ohl, Christelle
- Nava, Caroline
- Héron, Delphine
- Keren, Boris
- Depienne, Christel
- Benoit, Valérie
- Maystadt, Isabelle
- Lederer, Damien
- Amsallem, Daniel
- Piard, Juliette
Producer: 20151224
In:
European journal of medical genetics vol. 58
Availability: No items available.
|
|
|
5.
|
Prenatal sonographic description of fetuses affected by pyruvate dehydrogenase or pyruvate carboxylase deficiency. [electronic resource] by
- Egloff, Charles
- Eldin de Pecoulas, Aurelia
- Mechler, Charlotte
- Tassin, Mikael
- Mairovitz, Valerie
- Corrizi, Frederic
- Dussaux, Chloe
- Boutron, Audrey
- Simon, Isabelle
- Guet, Agnes
- Sibiude, Jeanne
- Mandelbrot, Laurent
- Picone, Olivier
Publication details: Prenatal diagnosis May 2018
In:
Prenatal diagnosis
Availability: No items available.
|
|
|
6.
|
Early neurological phenotype in 4 children with biallelic PRODH mutations. [electronic resource] by
- Afenjar, Alexandra
- Moutard, Marie-Laure
- Doummar, Diane
- Guët, Agnés
- Rabier, Daniel
- Vermersch, Anne-Isabelle
- Mignot, Cyril
- Burglen, Lydie
- Heron, Delphine
- Thioulouse, Elizabeth
- de Villemeur, Thierry Billette
- Campion, Dominique
- Rodriguez, Diana
Producer: 20071206
In:
Brain & development vol. 29
Availability: No items available.
|
|
|
7.
|
Parental view of epilepsy in Rett Syndrome. [electronic resource] by
- Bahi-Buisson, Nadia
- Nadia, Bahi-Buisson
- Guellec, Isabelle
- Isabelle, Guellec
- Nabbout, Rima
- Rima, Nabbout
- Guet, Agnès
- Agnès, Guet
- Nguyen, Gérard
- Gérard, Nguyen
- Dulac, Olivier
- Olivier, Dulac
- Chiron, Catherine
- Catherine, Chiron
Producer: 20080530
In:
Brain & development vol. 30
Availability: No items available.
|
|
|
8.
|
Further refinement of COL4A1 and COL4A2 related cortical malformations. [electronic resource] by
- Cavallin, Mara
- Mine, Manuele
- Philbert, Marion
- Boddaert, Nathalie
- Lepage, Jean Marie
- Coste, Thibault
- Lopez-Gonzalez, Vanessa
- Sanchez-Soler, Maria Jose
- Ballesta-Martínez, Maria Juliana
- Remerand, Ganaëlle
- Pasquier, Laurent
- Guët, Agnès
- Chelly, Jamel
- Lascelles, Karine
- Prieto-Morin, Carol
- Kossorotoff, Manoelle
- Tournier Lasserve, Elisabeth
- Bahi-Buisson, Nadia
Producer: 20190222
In:
European journal of medical genetics vol. 61
Availability: No items available.
|
|
|
9.
|
Type I hyperprolinemia: genotype/phenotype correlations. [electronic resource] by
- Guilmatre, Audrey
- Legallic, Solenn
- Steel, Gary
- Willis, Alecia
- Di Rosa, Gabriella
- Goldenberg, Alice
- Drouin-Garraud, Valérie
- Guet, Agnès
- Mignot, Cyril
- Des Portes, Vincent
- Valayannopoulos, Vassili
- Van Maldergem, Lionel
- Hoffman, Jodi D
- Izzi, Claudia
- Espil-Taris, Caroline
- Orcesi, Simona
- Bonafé, Luisa
- Le Galloudec, Eric
- Maurey, Hélène
- Ioos, Christine
- Afenjar, Alexandra
- Blanchet, Patricia
- Echenne, Bernard
- Roubertie, Agathe
- Frebourg, Thierry
- Valle, David
- Campion, Dominique
Producer: 20101020
In:
Human mutation vol. 31
Availability: No items available.
|
|
|
10.
|
Expanding the genetic and phenotypic relevance of KCNB1 variants in developmental and epileptic encephalopathies: 27 new patients and overview of the literature. [electronic resource] by
- Bar, Claire
- Barcia, Giulia
- Jennesson, Mélanie
- Le Guyader, Gwenaël
- Schneider, Amy
- Mignot, Cyril
- Lesca, Gaetan
- Breuillard, Delphine
- Montomoli, Martino
- Keren, Boris
- Doummar, Diane
- Billette de Villemeur, Thierry
- Afenjar, Alexandra
- Marey, Isabelle
- Gerard, Marion
- Isnard, Hervé
- Poisson, Alice
- Dupont, Sophie
- Berquin, Patrick
- Meyer, Pierre
- Genevieve, David
- De Saint Martin, Anne
- El Chehadeh, Salima
- Chelly, Jamel
- Guët, Agnès
- Scalais, Emmanuel
- Dorison, Nathalie
- Myers, Candace T
- Mefford, Heather C
- Howell, Katherine B
- Marini, Carla
- Freeman, Jeremy L
- Nica, Anca
- Terrone, Gaetano
- Sekhara, Tayeb
- Lebre, Anne-Sophie
- Odent, Sylvie
- Sadleir, Lynette G
- Munnich, Arnold
- Guerrini, Renzo
- Scheffer, Ingrid E
- Kabashi, Edor
- Nabbout, Rima
Producer: 20210519
In:
Human mutation vol. 41
Availability: No items available.
|
|
|
11.
|
Clinical and molecular phenotype of Aicardi-Goutieres syndrome. [electronic resource] by
- Rice, Gillian
- Patrick, Teresa
- Parmar, Rekha
- Taylor, Claire F
- Aeby, Alec
- Aicardi, Jean
- Artuch, Rafael
- Montalto, Simon Attard
- Bacino, Carlos A
- Barroso, Bruno
- Baxter, Peter
- Benko, Willam S
- Bergmann, Carsten
- Bertini, Enrico
- Biancheri, Roberta
- Blair, Edward M
- Blau, Nenad
- Bonthron, David T
- Briggs, Tracy
- Brueton, Louise A
- Brunner, Han G
- Burke, Christopher J
- Carr, Ian M
- Carvalho, Daniel R
- Chandler, Kate E
- Christen, Hans-Jurgen
- Corry, Peter C
- Cowan, Frances M
- Cox, Helen
- D'Arrigo, Stefano
- Dean, John
- De Laet, Corinne
- De Praeter, Claudine
- Dery, Catherine
- Ferrie, Colin D
- Flintoff, Kim
- Frints, Suzanna G M
- Garcia-Cazorla, Angels
- Gener, Blanca
- Goizet, Cyril
- Goutieres, Francoise
- Green, Andrew J
- Guet, Agnes
- Hamel, Ben C J
- Hayward, Bruce E
- Heiberg, Arvid
- Hennekam, Raoul C
- Husson, Marie
- Jackson, Andrew P
- Jayatunga, Rasieka
- Jiang, Yong-Hui
- Kant, Sarina G
- Kao, Amy
- King, Mary D
- Kingston, Helen M
- Klepper, Joerg
- van der Knaap, Marjo S
- Kornberg, Andrew J
- Kotzot, Dieter
- Kratzer, Wilfried
- Lacombe, Didier
- Lagae, Lieven
- Landrieu, Pierre Georges
- Lanzi, Giovanni
- Leitch, Andrea
- Lim, Ming J
- Livingston, John H
- Lourenco, Charles M
- Lyall, E G Hermione
- Lynch, Sally A
- Lyons, Michael J
- Marom, Daphna
- McClure, John P
- McWilliam, Robert
- Melancon, Serge B
- Mewasingh, Leena D
- Moutard, Marie-Laure
- Nischal, Ken K
- Ostergaard, John R
- Prendiville, Julie
- Rasmussen, Magnhild
- Rogers, R Curtis
- Roland, Dominique
- Rosser, Elisabeth M
- Rostasy, Kevin
- Roubertie, Agathe
- Sanchis, Amparo
- Schiffmann, Raphael
- Scholl-Burgi, Sabine
- Seal, Sunita
- Shalev, Stavit A
- Corcoles, C Sierra
- Sinha, Gyan P
- Soler, Doriette
- Spiegel, Ronen
- Stephenson, John B P
- Tacke, Uta
- Tan, Tiong Yang
- Till, Marianne
- Tolmie, John L
- Tomlin, Pam
- Vagnarelli, Federica
- Valente, Enza Maria
- Van Coster, Rudy N A
- Van der Aa, Nathalie
- Vanderver, Adeline
- Vles, Johannes S H
- Voit, Thomas
- Wassmer, Evangeline
- Weschke, Bernhard
- Whiteford, Margo L
- Willemsen, Michel A A
- Zankl, Andreas
- Zuberi, Sameer M
- Orcesi, Simona
- Fazzi, Elisa
- Lebon, Pierre
- Crow, Yanick J
Producer: 20071030
In:
American journal of human genetics vol. 81
Availability: No items available.
|