Doummar, D: search on Z-Library

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1

Assessment of key transport parameters in a karst system under different dynamic conditions based on tracer experiments: the Jeita karst system, Lebanon; Evaluation des paramètres clefs du transport dans un système karstique sous différentes conditions dynamiques à partir des essais de traçage: le système karstique de Jeita, Liban; Evaluación de parámetros de transporte claves en un sistema kárstico bajo diferentes condiciones dinámicas basadas en experimentos con trazadores: el sistema kárstico de Jeita, Líbano; 根据示踪实验评价岩溶系统中不同动力条件下关键运移参数: 黎巴嫩Jeita岩溶系统; Avaliação dos principais parâmetros em um sistema cárstico sob diferentes condições dinâmicas baseado em experimentos com traçadores: sistema cárstico Jeita, Líbano;

Doummar, Joanna, Margane, Armin, Geyer, Tobias, Sauter, Martin

Journal:

Hydrogeology Journal

Year:

2018

Language:

english

File:

PDF, 2.40 MB

english, 2018

2

Optimal Water Resources Management: Case of Lower Litani River, Lebanon

J. Doummar, M. A. Massoud, R. Khoury, M. Khawlie

Journal:

Water Resources Management

Year:

2009

Language:

english

File:

PDF, 592 KB

english, 2009

3

Exome sequencing in congenital ataxia identifies two new candidate genes and highlights a pathophysiological link between some congenital ataxias and early infantile epileptic encephalopathies

Valence, Stéphanie, Cochet, Emmanuelle, Rougeot, Christelle, Garel, Catherine, Chantot-Bastaraud, Sandra, Lainey, Elodie, Afenjar, Alexandra, Barthez, Marie-Anne, Bednarek, Nathalie, Doummar, Diane, F

Journal:

Genetics in Medicine

Year:

2018

Language:

english

File:

PDF, 1.80 MB

english, 2018

4

Impact of historic and future climate on spring recharge and discharge based on an integrated numerical modelling approach: Application on a snow-governed semi-arid karst catchment area

Doummar, Joanna, Hassan Kassem, Assaad, Gurdak, Jason J.

Journal:

Journal of Hydrology

Year:

2018

Language:

english

File:

PDF, 3.31 MB

english, 2018

5

Traitement des dystonies de l’enfant

A. Roubertie, E. Roze, N. Bahi-Buisson, C. Payet, B. Echenne, D. Doummar

Journal:

Archives de Pédiatrie

Year:

2010

File:

PDF, 335 KB

2010

6

Mouvements anormaux de l'enfant

A. Roubertie, S. Thobois, A. de Saint Martin, T. Billette de Villemeur, D. Doummar

Journal:

Archives de Pédiatrie

Year:

2006

Language:

french

File:

PDF, 120 KB

french, 2006

7

Haut taux de diagnostic identifié par séquençage de l’exome dans les pathologies neurologiques associant déficience intellectuelle et dystonie

Wirth, Thomas, Tranchant, Christine, Drouot, Nathalie, Keren, Boris, Mignot, Cyril, Doummar, Diane, Rudolf, Gabrielle, Anheim, Mathieu, Chelly, Jamel

Journal:

Revue Neurologique

Year:

2019

Language:

french

File:

PDF, 294 KB

french, 2019

8

Phenotype variability of infantile-onset multisystem neurologic, endocrine, and pancreatic disease IMNEPD

Picker-Minh, Sylvie, Mignot, Cyril, Doummar, Diane, Hashem, Mais, Faqeih, Eissa, Josset, Patrice, Dubern, Béatrice, Alkuraya, Fowzan S., Kraemer, Nadine, Kaindl, Angela M.

Journal:

Orphanet Journal of Rare Diseases

Year:

2016

Language:

english

File:

PDF, 3.28 MB

english, 2016

9

Simulation of flow processes in a large scale karst system with an integrated catchment model (Mike She) – Identification of relevant parameters influencing spring discharge

Joanna Doummar, Martin Sauter, Tobias Geyer

Journal:

Journal of Hydrology

Year:

2012

Language:

english

File:

PDF, 1.46 MB

english, 2012

10

Management of Severe Developmental Regression in an Autistic Child with a 1q21.3 Microdeletion and Self-Injurious Blindness

Cravero, Cora, Guinchat, Vincent, Xavier, Jean, Meunier, Camille, Diaz, Lautaro, Mignot, Cyril, Doummar, Diane, Chantot-Bastaraud, Sandra, Consoli, Angèle, Cohen, David

Journal:

Case Reports in Psychiatry

Year:

2017

Language:

english

File:

PDF, 2.96 MB

english, 2017

11

Fifteen years of research on oral–facial–digital syndromes: from 1 to 16 causal genes

Bruel, Ange-Line, Franco, Brunella, Duffourd, Yannis, Thevenon, Julien, Jego, Laurence, Lopez, Estelle, Deleuze, Jean-François, Doummar, Diane, Giles, Rachel H, Johnson, Colin A, Huynen, Martijn A, Ch

Journal:

Journal of Medical Genetics

Year:

2017

Language:

english

File:

PDF, 1.52 MB

english, 2017

12

Dystonic tremor caused by mutation of the glucose transporter geneGLUT1

Anne Roubergue, Emmanuelle Apartis, Valérie Mesnage, Diane Doummar, Jean-Marc Trocello, Emmanuel Roze, Guillaume Taieb, Thierry Billette De Villemeur, Sandrine Vuillaumier-Barrot, Marie Vidailhet, Ric

Journal:

Journal of Inherited Metabolic Disease

Year:

2011

Language:

english

File:

PDF, 219 KB

english, 2011

13

Early neurological phenotype in 4 children with biallelic PRODH mutations

Alexandra Afenjar, Marie-Laure Moutard, Diane Doummar, Agnés Guët, Daniel Rabier, Anne-Isabelle Vermersch, Cyril Mignot, Lydie Burglen, Delphine Heron, Elizabeth Thioulouse, Thierry Billette de Villem

Journal:

Brain and Development

Year:

2007

Language:

english

File:

PDF, 114 KB

english, 2007

14

Anti-flatulence treatment and status epilepticus: a case of camphor intoxication

Guilbert, J, Flamant, C, Hallalel, F, Doummar, D, Frata, A, Renolleau, S

Journal:

Emergency Medicine Journal

Year:

2007

Language:

english

File:

PDF, 140 KB

english, 2007

15

Single-Step Rapid Diagnosis of Dopamine and Serotonin Metabolism Disorders

Lo, Aurélien, Guibal, Pierre, Doummar, Diane, Rodriguez, Diana, Hautem, Jean-Yves, Couderc, Rémy, Billette De Villemeur, Thierry, Roze, Emmanuel, Chaminade, Pierre, Moussa, Fathi

Journal:

Year:

2017

Language:

english

File:

PDF, 3.92 MB

english, 2017

16

Long-term follow-up and adult outcome of 6-pyruvoyl-tetrahydropterin synthase deficiency

Emmanuel Roze, Marie Vidailhet, Nenad Blau, Lisbeth Birk Moller, Diane Doummar, Thierry Billette de Villemeur, Anne Roubergue

Journal:

Movement Disorders

Year:

2006

Language:

english

File:

PDF, 96 KB

english, 2006

17

Type 2 Gaucher disease: 15 new cases and review of the literature

Cyril Mignot, Diana Doummar, Irène Maire, Thierry Billette De Villemeur

Journal:

Brain and Development

Year:

2006

Language:

english

File:

PDF, 173 KB

english, 2006

18

Les chorées d’apparition aiguë ou subaiguë chez l’enfant : étude de 35 enfants (vidéo)

Doummar, D., Roubertie, A., Héron, B., Gras, D., Laroche, C., Motte, J., Maincent, K., Isapof, A., Rodriguez, D., Billette De Villemeur, T.

Journal:

Archives de Pédiatrie

Year:

2013

Language:

french

File:

PDF, 50 KB

french, 2013

19

Carbamazepine breakthrough as indicator for specific vulnerability of karst springs: Application on the Jeita spring, Lebanon

Doummar, Joanna, Geyer, Tobias, Baierl, Michael, Nödler, Karsten, Licha, Tobias, Sauter, Martin

Journal:

Applied Geochemistry

Year:

2014

Language:

english

File:

PDF, 1.72 MB

english, 2014

20

Novel KCNQ2 and KCNQ3 Mutations in a Large Cohort of Families with Benign Neonatal Epilepsy: First Evidence for an Altered Channel Regulation by Syntaxin-1A

Soldovieri, Maria Virginia, Boutry-Kryza, Nadia, Milh, Mathieu, Doummar, Diane, Heron, Benedicte, Bourel, Emilie, Ambrosino, Paolo, Miceli, Francesco, De Maria, Michela, Dorison, Nathalie, Auvin, Step

Journal:

Year:

2014

Language:

english

File:

PDF, 961 KB

english, 2014

21

ATP1A3 screening in patients with alternating hemiplegia of childhood and related phenotypes

Panagiotakaki, E., Michel, J., Doummar, D., Mignot, C., Flamand-Roze, E., Nicole, S., Guilbert, H., Sabouraud, P., Sanlaville, D., Arzimanoglou, A., Lesca, G.

Journal:

European Journal of Paediatric Neurology

Year:

2017

Language:

english

File:

PDF, 46 KB

english, 2017

22

B.02 Recessive mutations in ATP8A2 cause severe hypotonia, cognitive impairment, hyperkinetic movement disorders and progressive optic atrophy

McMillan, HJ, Telegrafi, A, Singleton, A, Cho, M, Lelli, D, Lynn, FC, Griffin, J, Asamoah, A, Rinne, T, Erasmus, CE, Koolen, DA, Haaxma, CA, Keren, B, Doummar, D, Mignot, C, Thompson, I, Velsher, L, D

Journal:

Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques

Year:

2018

Language:

english

File:

PDF, 36 KB

english, 2018

23

Les vomissements cycliques de l’enfant: le point de vue du neuropédiatre

A. Roubertie, D. Doummar, B. Echenne

Journal:

Archives de Pédiatrie

Year:

2012

Language:

french

File:

PDF, 106 KB

french, 2012

24

PROGRESSIVE MEGALENCEPHALY DUE TO SPECIFIC EIF2B MUTATIONS IN TWO UNRELATED FAMILIES

Passemard, S., Gelot, A., Fogli, A., N'Guyen, S., Barnerias, C., Niel, F., Doummar, D., Arbues, A. S., Mignot, C., de Villemeur, T. B., Ponsot, G., Boespflug-Tanguy, O., Rodriguez, D.

Journal:

Year:

2007

Language:

english

File:

PDF, 503 KB

english, 2007

25

B.02 Recessive mutations in ATP8A2 cause severe hypotonia, cognitive impairment, hyperkinetic movement disorders and progressive optic atrophy

McMillan, HJ, Telegrafi, A, Singleton, A, Cho, M, Lelli, D, Lynn, FC, Griffin, J, Asamoah, A, Rinne, T, Erasmus, CE, Koolen, DA, Haaxma, CA, Keren, B, Doummar, D, Mignot, C, Thompson, I, Velsher, L, D

Journal:

Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques

Year:

2018

File:

PDF, 36 KB

2018

26

Conduite à tenir devant une baisse aiguë de l'acuité visuelle chez l'enfant

D. Doummar, B. Roussat, B. Pelosse, H.Ducou Le Pointe, M. Iba-Zizen, A. Roubergue, D. Rodriguez, T.Billette de Villemeur

Journal:

Archives de Pédiatrie

Year:

2004

Language:

french

File:

PDF, 233 KB

french, 2004

27

Genetic variants in components of the NALCN–UNC80–UNC79 ion channel complex cause a broad clinical phenotype (NALCN channelopathies)

Bramswig, Nuria C., Bertoli-Avella, Aida M., Albrecht, Beate, Al Aqeel, Aida I., Alhashem, Amal, Al-Sannaa, Nouriya, Bah, Maissa, Bröhl, Katharina, Depienne, Christel, Dorison, Nathalie, Doummar, Dian

Journal:

Year:

2018

Language:

english

File:

PDF, 1.65 MB

english, 2018

28

Myoclonus dystonia plus syndrome due to a novel 7q21 microdeletion

Pascale Saugier-Veber, Diane Doummar, Marie-Anne Barthez, Virginie Czernecki, Nathalie Drouot, Emmanuelle Apartis, Lydie Bürglen, Thierry Frebourg, Emmanuel Roze

Journal:

American Journal of Medical Genetics Part A

Year:

2010

Language:

english

File:

PDF, 195 KB

english, 2010

29

Dystonie paroxystique familiale induite par l’exercice avec hémiplégie alternante de la petite enfance due à une mutation (P.ASP923ASN) ATP1A3

Roubergue, A., Roze, E., Vuillaumier-Barrot, S., Fontenille, M.-J., Méneret, A., Vidailhet, M., Fontaine, B., Doummar, D., Philibert, B., Riant, F., Nicole, S.

Journal:

Archives de Pédiatrie

Year:

2013

Language:

french

File:

PDF, 56 KB

french, 2013

30

Biallelic PDE2A variants: a new cause of syndromic paroxysmal dyskinesia

Doummar, Diane, Dentel, Christel, Lyautey, Romane, Metreau, Julia, Keren, Boris, Drouot, Nathalie, Malherbe, Ludivine, Bouilleret, Viviane, Courraud, JÃ©rÃ©mie, Valenti-Hirsch, Maria Paola, Minotti, L

Journal:

European Journal of Human Genetics

Year:

2020

File:

PDF, 2.28 MB

2020

31

Congenital mirror movements: Mutational analysis of RAD51 and DCC in 26 cases

Meneret, A., Depienne, C., Riant, F., Trouillard, O., Bouteiller, D., Cincotta, M., Bitoun, P., Wickert, J., Lagroua, I., Westenberger, A., Borgheresi, A., Doummar, D., Romano, M., Rossi, S., Defebvre

Journal:

Year:

2014

Language:

english

File:

PDF, 403 KB

english, 2014

32

Treatment for dystonia in childhood

A. Roubertie, L. L. Mariani, E. Fernandez-Alvarez, D. Doummar, E. Roze

Journal:

European Journal of Neurology

Year:

2012

Language:

english

File:

PDF, 558 KB

english, 2012

33

577 Baisse d’acuité visuelle récidivante dans la neuropathie optique de Leber : à propos d’un cas

Momtchilova, M., Pelosse, B., Saliba, M., Doummar, D., Laroche, L., Billette De Villemeur, T.

Journal:

Journal Français d'Ophtalmologie

Year:

2007

Language:

french

File:

PDF, 116 KB

french, 2007

34

The multiple faces of the ATP1A3 -related dystonic movement disorder

Roubergue, Anne, Roze, Emmanuel, Vuillaumier-Barrot, Sandrine, Fontenille, Marie-Joséphine, Méneret, Aurélie, Vidailhet, Marie, Fontaine, Bertrand, Doummar, Diane, Philibert, Bertrand, Riant, Florence

Journal:

Movement Disorders

Year:

2013

Language:

english

File:

PDF, 192 KB

english, 2013

35

MFN2, a new gene responsible for mitochondrial DNA depletion

Renaldo, F., Amati-Bonneau, P., Slama, A., Romana, C., Forin, V., Doummar, D., Barnerias, C., Bursztyn, J., Mayer, M., Khouri, N., Billette de Villemeur, T., Burglen, L., Reynier, P., Bernabe Gelot, A

Journal:

Year:

2012

Language:

english

File:

PDF, 360 KB

english, 2012

36

ARID1B mutations are the major genetic cause of corpus callosum anomalies in patients with intellectual disability

Mignot, Cyril, Moutard, Marie-Laure, Rastetter, Agnès, Boutaud, Lucile, Heide, Solveig, Billette, Thierry, Doummar, Diane, Garel, Catherine, Afenjar, Alexandra, Jacquette, Aurélia, Lacombe, Didier, Ve

Journal:

Year:

2016

Language:

english

File:

PDF, 445 KB

english, 2016

37

Deep brain stimulation and dystonia: About 10 new pediatric cases and a new DBS center in Paris

Dorison, Nathalie, Doummar, D., Vidailhet, M., Verollet, D., Marchal, F., d'Hardemare, V.

Journal:

European Journal of Paediatric Neurology

Year:

2017

Language:

english

File:

PDF, 170 KB

english, 2017

38

Cognitive disorders in patients with CACNA1A mutations

Agathe, Roubertie, Véronique, Humbertclaude, Florence, Riant, Valérie, Zimmermann, Benjamin, Krams, Nicolas, Nagot, Diane, Doummar, Erika, Nogue, Elisabeth, Tournier-Lasserve

Journal:

European Journal of Paediatric Neurology

Year:

2017

Language:

english

File:

PDF, 151 KB

english, 2017

39

Biallelic mutations in the homeodomain of NKX6-2 underlie a severe hypomyelinating leukodystrophy

Dorboz, Imen, Aiello, Chiara, Simons, Cas, Stone, Robert Thompson, Niceta, Marcello, Elmaleh, Monique, Abuawad, Mohammad, Doummar, Diane, Bruselles, Alessandro, Wolf, Nicole I., Travaglini, Lorena, Bo

Journal:

Year:

2017

Language:

english

File:

PDF, 416 KB

english, 2017

40

Les dyskinésies paroxystiques kinésigéniques : une « canalopathie » ? Étude de 19 cas

Fourcade, G., Roubertie, A., Doummar, D., Vidailhet, M., Labauge, P.

Journal:

Revue Neurologique

Year:

2009

File:

PDF, 213 KB

2009

41

Psychogenic dystonia or organic dystonia? About 2 DYT 1 cases

Dorison, N., d'Hardemare, V., Vidailhet, M., Moutard, M.L., Desportes, V., Coubes, P., Doummar, D.

Journal:

European Journal of Paediatric Neurology

Year:

2017

Language:

english

File:

PDF, 50 KB

english, 2017

42

Movement disorders in patients with alternating hemiplegia

Panagiotakaki, Eleni, Doummar, Diane, Nogue, Erika, Nagot, Nicolas, Lesca, Gaetan, Riant, Florence, Nicole, Sophie, Delaygue, Charlene, Barthez, Marie Anne, Nassogne, Marie CÃ©cile, Dusser, Anne, Vall

Journal:

Year:

2020

Language:

english

File:

PDF, 335 KB

english, 2020

43

Infantile hypokinetic-hypotonic syndrome due to two novel mutations of the tyrosine hydroxylase gene

Diane Doummar, Fabienne Clot, Marie Vidailhet, Alexandra Afenjar, Alexandra Durr, Alexis Brice, Cyril Mignot, Agnès Guet, Thierry Billette de Villemeur, Diana Rodriguez

Journal:

Movement Disorders

Year:

2009

Language:

english

File:

PDF, 302 KB

english, 2009

44

Comparison of two methods of monitoring thrips populations in a greenhouse rose crop

Jeannine Pizzol, Doummar Nammour, Pierre Hervouet, Alexandre Bout, Nicolas Desneux, Ludovic Mailleret

Journal:

Journal of Pest Science

Year:

2010

Language:

english

File:

PDF, 259 KB

english, 2010

45

P185 – 1981 Excellent response to ketogenic diet (modified Atkins diet) in a case of alternating hemiplegia of childhood

Roubergue, A, Philibert, B, Gautier, A, Kuster, A, Markowicz, K, Billette de Villemeur, T, Vuillaumier-Barrot, S, Nicole, S, Roze, E, Doummar, D

Journal:

European Journal of Paediatric Neurology

Year:

2013

Language:

english

File:

PDF, 66 KB

english, 2013

46

Advances in the metabolic profiling of acidic compounds in children's urines achieved by comprehensive two-dimensional gas chromatography

Vasquez, N.Pérez, Bonose, M., Lévêque, N., Thioulouse, E., Doummar, D., Villemeur, T.Billette de, Rodriguez, D., Couderc, R., Robin, S., Courderot-Masuyer, C., Moussa, F.

Journal:

Journal of Chromatography B

Year:

2015

Language:

english

File:

PDF, 569 KB

english, 2015

47

The Internal Globus Pallidus at 3.0 Tesla: Choice of optimal sequence and orientation for deep brain stimulation using a standard installation protocol

d'Hardemare, V., Doummar, D., Pidoux, B., Dorfmuller, G., Dorison, N.

Journal:

European Journal of Paediatric Neurology

Year:

2017

Language:

english

File:

PDF, 31 KB

english, 2017

48

Assessment of the origin and transport of four selected emerging micropollutants sucralose, Acesulfame-K, gemfibrozil, and iohexol in a karst spring during a multi-event spring response

Doummar, Joanna, Aoun, Michel

Journal:

Journal of Contaminant Hydrology

Year:

2018

Language:

english

File:

PDF, 1.88 MB

english, 2018

49

Congenital immobility and stiffness related to biallelic ATAD1 variants

Bunod, Roxane, Doummar, Diane, Whalen, Sandra, Keren, Boris, Chantot-Bastaraud, Sandra, Maincent, Kim, Villy, Marie-Charlotte, Mayer, MichÃ¨le, Rodriguez, Diana, Burglen, Lydie, LÃ©ger, Pierre-Louis,

Journal:

Neurology: Genetics

Year:

2020

File:

PDF, 363 KB

2020

50

Should the academy meet in december?

Fourcade, G., Roubertie, A., Doummar, D., Vidailhet, M., Labauge, P.

Journal:

Journal of the American Academy of Dermatology

Year:

1979

Language:

english

File:

PDF, 210 KB

english, 1979

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