Results
|
1.
|
|
|
2.
|
|
|
3.
|
|
|
4.
|
|
|
5.
|
Involvement of the modifier gene of a human Mendelian disorder in a negative selection process. [electronic resource] by
- Jéru, Isabelle
- Hayrapetyan, Hasmik
- Duquesnoy, Philippe
- Cochet, Emmanuelle
- Serre, Jean-Louis
- Feingold, Josué
- Grateau, Gilles
- Sarkisian, Tamara
- Jeanpierre, Marc
- Amselem, Serge
Producer: 20100312
In:
PloS one vol. 4
Availability: No items available.
|
|
6.
|
|
|
7.
|
FOunder effect in patients with Unverricht-Lundborg disease on reunion island. [electronic resource] by
- Moulard, Bruno
- Darcel, Françoise
- Mignard, Didier
- Jeanpierre, Marc
- Genton, Pierre
- Cartault, François
- Yaouanq, Jacqueline
- Roubertie, Agathe
- Biraben, Arnaud
- Buresi, Catherine
- Malafosse, Alain
Producer: 20031125
In:
Epilepsia vol. 44
Availability: No items available.
|
|
8.
|
Permanent muscle weakness in McArdle disease. [electronic resource] by
- Nadaj-Pakleza, Aleksandra A
- Vincitorio, Carlo M
- Laforêt, Pascal
- Eymard, Bruno
- Dion, Elisabeth
- Teijeira, Susana
- Vietez, Irene
- Jeanpierre, Marc
- Navarro, Carmen
- Stojkovic, Tanya
Producer: 20091006
In:
Muscle & nerve vol. 40
Availability: No items available.
|
|
9.
|
TAC3 and TACR3 defects cause hypothalamic congenital hypogonadotropic hypogonadism in humans. [electronic resource] by
- Young, Jacques
- Bouligand, Jérôme
- Francou, Bruno
- Raffin-Sanson, Marie-Laure
- Gaillez, Stéphanie
- Jeanpierre, Marc
- Grynberg, Michael
- Kamenicky, Peter
- Chanson, Philippe
- Brailly-Tabard, Sylvie
- Guiochon-Mantel, Anne
Producer: 20100528
In:
The Journal of clinical endocrinology and metabolism vol. 95
Availability: No items available.
|
|
10.
|
Evidence of a founder effect for the RETGC1 (GUCY2D) 2943DelG mutation in Leber congenital amaurosis pedigrees of Finnish origin. [electronic resource] by
- Hanein, Sylvain
- Perrault, Isabelle
- Olsen, Päivi
- Lopponen, Tuija
- Hietala, Marja
- Gerber, Sylvie
- Jeanpierre, Marc
- Barbet, Fabienne
- Ducroq, Dominique
- Hakiki, Sélim
- Munnich, Arnold
- Rozet, Jean-Michel
- Kaplan, Josseline
Producer: 20030103
In:
Human mutation vol. 20
Availability: No items available.
|
|
11.
|
Population history and infrequent mutations: how old is a rare mutation? GUCY2D as a worked example. [electronic resource] by
- Hanein, Sylvain
- Perrault, Isabelle
- Gerber, Sylvie
- Delphin, Nathalie
- Benezra, David
- Shalev, Stavit
- Carmi, Rivka
- Feingold, Josué
- Dufier, Jean-Louis
- Munnich, Arnold
- Kaplan, Josseline
- Rozet, Jean-Michel
- Jeanpierre, Marc
Producer: 20080212
In:
European journal of human genetics : EJHG vol. 16
Availability: No items available.
|
|
12.
|
Origin of the prevalent SFTPB indel g.1549C > GAA (121ins2) mutation causing surfactant protein B (SP-B) deficiency. [electronic resource] by
- Tredano, Mohammed
- Cooper, David N
- Stuhrmann, Manfred
- Christodoulou, John
- Chuzhanova, Nadia A
- Roudot-Thoraval, Françoise
- Boëlle, Pierre-Yves
- Elion, Jacques
- Jeanpierre, Marc
- Feingold, Josué
- Couderc, Rémy
- Bahuau, Michel
Producer: 20060307
In:
American journal of medical genetics. Part A vol. 140
Availability: No items available.
|
|
13.
|
Variable hypomethylation of D4Z4 in facioscapulohumeral muscular dystrophy. [electronic resource] by
- van Overveld, Petra G M
- Enthoven, Leo
- Ricci, Enzo
- Rossi, Monica
- Felicetti, Luciano
- Jeanpierre, Marc
- Winokur, Sara T
- Frants, Rune R
- Padberg, George W
- van der Maarel, Silvère M
Producer: 20051215
In:
Annals of neurology vol. 58
Availability: No items available.
|
|
14.
|
A founder effect at the EPCAM locus in Congenital Tufting Enteropathy in the Arabic Gulf. [electronic resource] by
- Salomon, Julie
- Espinosa-Parrilla, Yolanda
- Goulet, Olivier
- Al-Qabandi, Wafa'a
- Guigue, Philippe
- Canioni, Danielle
- Bruneau, Julie
- Alzahrani, Fatema
- Almuhsen, Saleh
- Cerf-Bensussan, Nadine
- Jeanpierre, Marc
- Brousse, Nicole
- Lyonnet, Stanislas
- Munnich, Arnold
- Smahi, Asma
Producer: 20110928
In:
European journal of medical genetics vol. 54
Availability: No items available.
|
|
15.
|
Refined genetic mapping of autosomal recessive chronic distal spinal muscular atrophy to chromosome 11q13.3 and evidence of linkage disequilibrium in European families. [electronic resource] by
- Viollet, Louis
- Zarhrate, Mohammed
- Maystadt, Isabelle
- Estournet-Mathiaut, Brigitte
- Barois, Annie
- Desguerre, Isabelle
- Mayer, Michèle
- Chabrol, Brigitte
- LeHeup, Bruno
- Cusin, Veronica
- Billette De Villemeur, Thierry
- Bonneau, Dominique
- Saugier-Veber, Pascale
- Touzery-De Villepin, Anne
- Delaubier, Anne
- Kaplan, Jocelyne
- Jeanpierre, Marc
- Feingold, Joshué
- Munnich, Arnold
Producer: 20041207
In:
European journal of human genetics : EJHG vol. 12
Availability: No items available.
|
|
16.
|
Mutation history of the roma/gypsies. [electronic resource] by
- Morar, Bharti
- Gresham, David
- Angelicheva, Dora
- Tournev, Ivailo
- Gooding, Rebecca
- Guergueltcheva, Velina
- Schmidt, Carolin
- Abicht, Angela
- Lochmuller, Hanns
- Tordai, Attila
- Kalmar, Lajos
- Nagy, Melinda
- Karcagi, Veronika
- Jeanpierre, Marc
- Herczegfalvi, Agnes
- Beeson, David
- Venkataraman, Viswanathan
- Warwick Carter, Kim
- Reeve, Jeff
- de Pablo, Rosario
- Kucinskas, Vaidutis
- Kalaydjieva, Luba
Producer: 20041216
In:
American journal of human genetics vol. 75
Availability: No items available.
|
|
17.
|
Haplotype study of West European and North African Unverricht-Lundborg chromosomes: evidence for a few founder mutations. [electronic resource] by
- Moulard, Bruno
- Genton, Pierre
- Grid, Djamel
- Jeanpierre, Marc
- Ouazzani, Réda
- Mrabet, Amel
- Morris, Mike
- LeGuern, Eric
- Dravet, Charlotte
- Mauguière, François
- Utermann, Barbara
- Baldy-Moulinier, Michel
- Belaidi, Halima
- Bertran, Françoise
- Biraben, Arnaud
- Ali Chérif, André
- Chkili, Taieb
- Crespel, Arielle
- Darcel, Françoise
- Dulac, Olivier
- Geny, Christian
- Humbert-Claude, Véronique
- Kassiotis, Philippe
- Buresi, Catherine
- Malafosse, Alain
Producer: 20021202
In:
Human genetics vol. 111
Availability: No items available.
|
|
18.
|
Targeted Exome Sequencing Identifies [electronic resource] by
- Heidet, Laurence
- Morinière, Vincent
- Henry, Charline
- De Tomasi, Lara
- Reilly, Madeline Louise
- Humbert, Camille
- Alibeu, Olivier
- Fourrage, Cécile
- Bole-Feysot, Christine
- Nitschké, Patrick
- Tores, Frédéric
- Bras, Marc
- Jeanpierre, Marc
- Pietrement, Christine
- Gaillard, Dominique
- Gonzales, Marie
- Novo, Robert
- Schaefer, Elise
- Roume, Joëlle
- Martinovic, Jelena
- Malan, Valérie
- Salomon, Rémi
- Saunier, Sophie
- Antignac, Corinne
- Jeanpierre, Cécile
Producer: 20171019
In:
Journal of the American Society of Nephrology : JASN vol. 28
Availability: No items available.
|
|
19.
|
An ancient founder mutation in PROKR2 impairs human reproduction. [electronic resource] by
- Avbelj Stefanija, Magdalena
- Jeanpierre, Marc
- Sykiotis, Gerasimos P
- Young, Jacques
- Quinton, Richard
- Abreu, Ana Paula
- Plummer, Lacey
- Au, Margaret G
- Balasubramanian, Ravikumar
- Dwyer, Andrew A
- Florez, Jose C
- Cheetham, Timothy
- Pearce, Simon H
- Purushothaman, Radhika
- Schinzel, Albert
- Pugeat, Michel
- Jacobson-Dickman, Elka E
- Ten, Svetlana
- Latronico, Ana Claudia
- Gusella, James F
- Dode, Catherine
- Crowley, William F
- Pitteloud, Nelly
Producer: 20130314
In:
Human molecular genetics vol. 21
Availability: No items available.
|
|
20.
|
Study of LPIN1, LPIN2 and LPIN3 in rhabdomyolysis and exercise-induced myalgia. [electronic resource] by
- Michot, Caroline
- Hubert, Laurence
- Romero, Norma B
- Gouda, Amr
- Mamoune, Asmaa
- Mathew, Suja
- Kirk, Edwin
- Viollet, Louis
- Rahman, Shamima
- Bekri, Soumeya
- Peters, Heidi
- McGill, James
- Glamuzina, Emma
- Farrar, Michelle
- von der Hagen, Maya
- Alexander, Ian E
- Kirmse, Brian
- Barth, Magalie
- Laforet, Pascal
- Benlian, Pascale
- Munnich, Arnold
- JeanPierre, Marc
- Elpeleg, Orly
- Pines, Ophry
- Delahodde, Agnès
- de Keyzer, Yves
- de Lonlay, Pascale
Producer: 20130405
In:
Journal of inherited metabolic disease vol. 35
Availability: No items available.
|