I. Ratbi : rechercher sur Z-Library

Le plus grand référentiel d'articles scientifiques au monde. 70,000,000+ d'articles gratuitement.

Don't use scam websites

Livres
Articles (60)
Les plus populaires
Liste
- Liste
- Tableau

1

Rarely occurring mutation of ACVR1 gene in Moroccan patient with fibrodysplasia ossificans progressiva

Ilham Ratbi, Renata Borcciadi, Asmaa Regragui, Roberto Ravazzolo, Abdelaziz Sefiani

Journal:

Clinical Rheumatology

Année:

2010

Langue:

english

Fichier:

PDF, 68 KB

english, 2010

2

Correction to: Rarely occurring mutation of ACVR1 gene in Moroccan patient with fibrodysplasia ossificans progressiva

Ratbi, Ilham, Bocciardi, Renata, Regragui, Asmaa, Ravazzolo, Roberto, Sefiani, Abdelaziz

Journal:

Clinical Rheumatology

Année:

2017

Langue:

english

Fichier:

PDF, 272 KB

english, 2017

3

Critical Study of the Different Types of Maintenance Used in Industry

ER-RATBY, Mohamed, MABROUKI, Mustapha

Journal:

Research Journal of Applied Sciences, Engineering and Technology `

Année:

2018

Langue:

english

Fichier:

PDF, 177 KB

english, 2018

4

Germinal mosaicism in Noonan syndrome: A family with two affected siblings of normal parents

Siham Chafai Elalaoui, Lilia Kraoua, Céline Liger, Ilham Ratbi, Hélène Cavé, Abdelaziz Sefiani

Journal:

American Journal of Medical Genetics Part A

Année:

2010

Langue:

english

Fichier:

PDF, 130 KB

english, 2010

5

L'Angine de la mononucléose infectieuse: Un piège diagnostique pour l'anatomopathologiste

Sanae Sefiani, Ilham Ratbi, Mustapha Maher, Fouad Kettani, Ammar Saidi

Journal:

Revue Française des Laboratoires

Année:

2005

Fichier:

PDF, 3.50 MB

2005

6

Microdélétion 22q11.2 révélée par une hypocalcémie néonatale avec une dysmorphie faciale mineure

Siham Chafai Elalaoui, Ilham Ratbi, Souad Cherkaoui Deqaqi, Karim Ouldim, Abdelaziz Sefiani

Journal:

Revue Francophone des Laboratoires

Année:

2009

Langue:

french

Fichier:

PDF, 193 KB

french, 2009

7

La mutation 35delG du gène de la connexine 26, une cause fréquente des surdités non syndromiques autosomiques récessives au Maroc

I. Ratbi, S. Hajji, K. Ouldim, N. Aboussair, D. Feldmann, A. Sefiani

Journal:

Archives de Pédiatrie

Année:

2007

Langue:

french

Fichier:

PDF, 241 KB

french, 2007

8

L’amyotrophie spinale infantile : cause fréquente des hypotonies congénitales au Maroc

A. Sbiti, I. Ratbi, Y. Kriouile, A. Sefiani

Journal:

Archives de Pédiatrie

Année:

2011

Fichier:

PDF, 207 KB

2011

9

Non-association of Crohn's disease with NOD2 gene variants in Moroccan patients

I. Hama, I. Ratbi, S. Reggoug, F. Elkerch, G. Kharrasse, I. Errabih, H. Ouazzani, A. Sefiani

Journal:

Année:

2012

Langue:

english

Fichier:

PDF, 152 KB

english, 2012

10

Severe form of hypoglossia–hypodactylia syndrome associated with complex cardiopathy: A case report

Siham Chafai Elalaoui, Ilham Ratbi, Mohamed Malih, Mohamed Bounasse, Abdelaziz Sefiani

Journal:

International Journal of Pediatric Otorhinolaryngology

Année:

2010

Langue:

english

Fichier:

PDF, 275 KB

english, 2010

11

Hemorragies digestives hautes et anti-inflammatoires chez l'enfant. A propos de 77 cas

O. Mouterde, A. Ratbi, E. Mallet

Journal:

Archives de Pédiatrie

Année:

1999

Fichier:

PDF, 153 KB

1999

12

Cystic fibrosis carrier frequency and estimated prevalence of the disease in Morocco

Ilham Ratbi, Emmanuelle Génin, Marie Legendre, Annick Le Floch, Catherine Costa, Souad Cherkaoui-Deqqaqi, Michel Goossens, Abdelaziz Sefiani, Emmanuelle Girodon

Journal:

Journal of Cystic Fibrosis

Année:

2008

Langue:

english

Fichier:

PDF, 119 KB

english, 2008

13

Low Prevalence of p.G352fsdelG Mutation in Phenylketonuria Patients from Morocco

Lamzouri, Afaf, Ratbi, Ilham, Laarabi, Fatima Z., Barkat, Amina, Sefiani, Abdelaziz

Journal:

Genetic Testing and Molecular Biomarkers

Année:

2012

Langue:

english

Fichier:

PDF, 134 KB

english, 2012

14

Spinal Muscular Atrophy Carrier Frequency and Estimated Prevalence of the Disease in Moroccan Newborns

Lyahyai, Jaber, Sbiti, Aziza, Barkat, Amina, Ratbi, Ilham, Sefiani, Abdelaziz

Journal:

Genetic Testing and Molecular Biomarkers

Année:

2012

Langue:

english

Fichier:

PDF, 168 KB

english, 2012

15

A Mutation in CALM1 Encoding Calmodulin in Familial Idiopathic Ventricular Fibrillation in Childhood and Adolescence

Marsman, Roos F., Barc, Julien, Beekman, Leander, Alders, Marielle, Dooijes, Dennis, van den Wijngaard, Arthur, Ratbi, Ilham, Sefiani, Abdelaziz, Bhuiyan, Zahurul A., Wilde, Arthur A.M., Bezzina, Conn

Journal:

Journal of the American College of Cardiology

Année:

2014

Langue:

english

Fichier:

PDF, 1.01 MB

english, 2014

16

La fibromatose hyaline juvénile : une nouvelle observation

Guerouaz, N., Benhiba, H., Lamchaheb, F.Z., Rimani, M., Lyahyai, J., Ratbi, I., Sefiani, A., Senouci, K., Hassam, B.

Journal:

Annales de Dermatologie et de Vénéréologie

Année:

2012

Langue:

french

Fichier:

PDF, 95 KB

french, 2012

17

Estimation de la prévalence de la mutation p.G352fsdelG du gène PAH de la phénylcétonurie au Maroc

Laarabi, F.Z., Lamzouri, A., Ratbi, I., Barkat, A., Sefiani, A.

Journal:

Revue d'Épidémiologie et de Santé Publique

Année:

2012

Langue:

french

Fichier:

PDF, 85 KB

french, 2012

18

Fistules congénitales de la lèvre inférieure

Fejjal, N., Ratbi, I., Benabdellah, F.

Journal:

Annales de Dermatologie et de Vénéréologie

Année:

2012

Langue:

french

Fichier:

PDF, 379 KB

french, 2012

19

Carrier Frequency of the c.525delT Mutation in the SGCG Gene and Estimated Prevalence of Limb Girdle Muscular Dystrophy Type 2C Among the Moroccan Population

El Kerch, Fatiha, Ratbi, Ilham, Sbiti, Aziza, Laarabi, Fatima-Zohra, Barkat, Amina, Sefiani, Abdelaziz

Journal:

Genetic Testing and Molecular Biomarkers

Année:

2014

Langue:

english

Fichier:

PDF, 271 KB

english, 2014

20

Distribution of allelic and genotypic frequencies ofNAT2andCYP2E1variants in Moroccan population

Guaoua, Soukaina, Ratbi, Ilham, Laarabi, Fatima Zahra, Elalaoui, Siham Chafai, Jaouad, Imane Cherkaoui, Barkat, Amina, Sefiani, Abdelaziz

Journal:

Année:

2014

Langue:

english

Fichier:

PDF, 380 KB

english, 2014

21

Developments in FINDbase worldwide database for clinically relevant genomic variation allele frequencies

Papadopoulos, P., Viennas, E., Gkantouna, V., Pavlidis, C., Bartsakoulia, M., Ioannou, Z.-M., Ratbi, I., Sefiani, A., Tsaknakis, J., Poulas, K., Tzimas, G., Patrinos, G. P.

Journal:

Nucleic Acids Research

Année:

2014

Langue:

english

Fichier:

PDF, 4.39 MB

english, 2014

22

Clinical and molecular findings in a Moroccan patient with popliteal pterygium syndrome: a case report

Ratbi, Ilham, Fejjal, Nawfal, Legendre, Marie, Collot, Nathalie, Amselem, Serge, Sefiani, Abdelaziz

Journal:

Journal of Medical Case Reports

Année:

2014

Langue:

english

Fichier:

PDF, 579 KB

english, 2014

23

A Novel Mutation in the Endothelin B Receptor Gene in a Moroccan Family with Shah-Waardenburg Syndrome

Doubaj, Yassamine, Pingault, Véronique, Elalaoui, Siham C., Ratbi, Ilham, Azouz, Mohamed, Zerhouni, Hicham, Ettayebi, Fouad, Sefiani, Abdelaziz

Journal:

Molecular Syndromology

Année:

2015

Langue:

english

Fichier:

PDF, 644 KB

english, 2015

24

Renal amyloidosis due to familial Mediterranean fever misdiagnosed

Hama, Iman, Ilham, Ratbi, Ouzeddoun, Naima, Alhamany, Zaitouna, Bayahia, Radia, Sefiani, Abdelaziz

Journal:

Indian Journal of Human Genetics

Année:

2012

Langue:

english

Fichier:

PDF, 305 KB

english, 2012

25

A recurrent mutation in Moroccan patients with Dyggve-Melchior-Clausen syndrome: Report of a new case and review

Elalaoui, SihamChafai, Ilham, Ratbi, Abdelaziz, Sefiani, Mariam, Tajir, Yassamine, Doubaj

Journal:

Indian Journal of Human Genetics

Année:

2011

Langue:

english

Fichier:

PDF, 136 KB

english, 2011

26

Moroccan consanguineous family with Becker myotonia and review

Ratbi, Ilham, Escudero, Adela, Molano, Jesus, Elalaoui, SihamChafai, Kriouile, Yamina, Sefiani, Abdelaziz

Journal:

Annals of Indian Academy of Neurology

Année:

2011

Langue:

english

Fichier:

PDF, 488 KB

english, 2011

27

Exome sequencing reveals a novel Moroccan founder mutation in SLC19A3 as a new cause of early-childhood fatal Leigh syndrome

Gerards, M., Kamps, R., van Oevelen, J., Boesten, I., Jongen, E., de Koning, B., Scholte, H. R., de Angst, I., Schoonderwoerd, K., Sefiani, A., Ratbi, I., Coppieters, W., Karim, L., de Coo, R., van de

Journal:

Année:

2013

Langue:

english

Fichier:

PDF, 551 KB

english, 2013

28

Heimler Syndrome Is Caused by Hypomorphic Mutations in the Peroxisome-Biogenesis Genes PEX1 and PEX6

Ratbi, Ilham, Falkenberg, Kim D., Sommen, Manou, Al-Sheqaih, Nada, Guaoua, Soukaina, Vandeweyer, Geert, Urquhart, Jill E., Chandler, Kate E., Williams, Simon G., Roberts, Neil A., El Alloussi, Mustaph

Journal:

The American Journal of Human Genetics

Année:

2015

Langue:

english

Fichier:

PDF, 1.43 MB

english, 2015

29

Perineal approach for surgical treatment in a patient with retro-rectal tumor: a case report and review of the literature

Tarchouli, Mohamed, Zentar, Aziz, Ratbi, Moulay Brahim, Bensal, Abdelhak, Khmamouche, Mohamed Reda, Ali, Abdelmounaim Ait, bounaim, Ahmed, Elfahssi, Mohammed, Sair, Khalid

Journal:

BMC Research Notes

Année:

2015

Langue:

english

Fichier:

PDF, 1.19 MB

english, 2015

30

Report of the First Clinical Case of a Moroccan Kabuki Patient with a Novel MLL2 Mutation

Ratbi, I., Fejjal, N., Micale, L., Augello, B., Fusco, C., Lyahyai, J., Merla, G., Sefiani, A.

Journal:

Molecular Syndromology

Année:

2013

Langue:

english

Fichier:

PDF, 295 KB

english, 2013

31

Long-standing insulinoma: two case reports and review of the literature

Tarchouli, Mohamed, Ait Ali, Abdelmounaim, Ratbi, Moulay Brahim, Belhamidi, Mohamed said, Essarghini, Mohamed, Aboulfeth, El Mehdi, Bouzroud, Mohamed, Sbitti, Yassir, Oukabli, Mohamed, Elfahssi, Moham

Journal:

BMC Research Notes

Année:

2015

Langue:

english

Fichier:

PDF, 1.25 MB

english, 2015

32

Clinical and molecular findings in three Moroccan families with distal renal tubular acidosis and deafness: Report of a novel mutation of ATP6V1B1 gene

Boualla, L., Jdioui, W., Soulami, K., Ratbi, I., Sefiani, A.

Journal:

Current Research in Translational Medicine

Année:

2016

Langue:

english

Fichier:

PDF, 602 KB

english, 2016

33

Giant inguinoscrotal hernia containing intestinal segments and urinary bladder successfully repaired by simple hernioplasty technique: a case report

Tarchouli, Mohamed, Ratbi, Moulay-Brahim, Bouzroud, Mohamed, Aitidir, Badr, Ait-Ali, Abdelmounaim, Bounaim, Ahmed, Sair, Khalid

Journal:

Journal of Medical Case Reports

Année:

2015

Langue:

english

Fichier:

PDF, 2.60 MB

english, 2015

34

Detection of cystic fibrosis transmembrane conductance regulator (CFTR) gene rearrangements enriches the mutation spectrum in congenital bilateral absence of the vas deferens and impacts on genetic counselling

Ratbi, I., Legendre, M., Niel, F., Martin, J., Soufir, J.-C., Izard, V., Costes, B., Costa, C., Goossens, M., Girodon, E.

Journal:

Human Reproduction

Année:

2007

Langue:

english

Fichier:

PDF, 260 KB

english, 2007

35

Clinical and molecular report of novelGALCmutations in Moroccan patient with Krabbe disease: case report

Zerkaoui, M., Ratbi, I., Castellotti, B., Gellera, C., Lyahyai, J., Kriouile, Y., Sefiani, A.

Journal:

Année:

2015

Langue:

english

Fichier:

PDF, 580 KB

english, 2015

36

First application of next‑generation sequencing in Moroccan breast/ovarian cancer families and report of a novel frameshift mutation of the BRCA1 gene

Jouali, Farah, Laarabi, Fatima‑Zahra, Marchoudi, Nabila, Ratbi, Ilham, Elalaoui, Siham, Rhaissi, Houria, Fekkak, Jamal, Sefiani, Abdelaziz

Journal:

Oncology Letters

Année:

2016

Langue:

english

Fichier:

PDF, 504 KB

english, 2016

37

NAT2 Genotypes in Moroccan Patients with Hepatotoxicity Due to Antituberculosis Drugs

Guaoua, Soukaina, Ratbi, Ilham, El Bouazzi, Omaima, Hammi, Sanaa, Tebaa, Amina, Bourkadi, Jamal Eddine, Soulaymani Bencheikh, Rachida, Sefiani, Abdelaziz

Journal:

Genetic Testing and Molecular Biomarkers

Année:

2016

Langue:

english

Fichier:

PDF, 110 KB

english, 2016

38

Severe early onset retinitis pigmentosa in a Moroccan patient with Heimler syndrome due to novel homozygous mutation of PEX1 gene

Ratbi, Ilham, Jaouad, Imane Cherkaoui, Elorch, Hamza, Al-Sheqaih, Nada, Elalloussi, Mustapha, Lyahyai, Jaber, Berraho, Amina, Newman, William G., Sefiani, Abdelaziz

Journal:

European Journal of Medical Genetics

Année:

2016

Langue:

english

Fichier:

PDF, 7.14 MB

english, 2016

39

Non lethal Raine syndrome and differential diagnosis

Elalaoui, Siham Chafai, Al-Sheqaih, Nada, Ratbi, Ilham, Urquhart, Jill E., O'Sullivan, James, Bhaskar, Sanjeev, Williams, Simon S., Elalloussi, Mustapha, Lyahyai, Jaber, Sbihi, Leila, Cherkaoui Jaouad

Journal:

European Journal of Medical Genetics

Année:

2016

Langue:

english

Fichier:

PDF, 1.63 MB

english, 2016

40

[IEEE 2016 13th International Conference on New Technologies for Distributed Systems (NOTERE) - Paris, France (2016.7.18-2016.7.18)] 2016 13th International Conference on New Technologies for Distributed Systems (NOTERE) - Acadoop, a lightweight MapReduce framework for education and prototyping

Aarab, Zakaria, Haimouti, Walid El, Idbenouakrim, Hamza, Ouinou, Aissam, Ratbi, Ayoub, Maurant, Philippe, Tchana, Alain

Année:

2016

Fichier:

PDF, 849 KB

2016

41

Exome sequencing identifies primary carnitine deficiency in a family with cardiomyopathy and sudden death

Lahrouchi, Najim, Lodder, Elisabeth M, Mansouri, Maria, Tadros, Rafik, Zniber, Layla, Adadi, Najlae, Clur, Sally-Ann B, van Spaendonck-Zwarts, Karin Y, Postma, Alex V, Sefiani, Abdelaziz, Ratbi, Ilham

Journal:

European Journal of Human Genetics

Année:

2017

Langue:

english

Fichier:

PDF, 871 KB

english, 2017

42

Clinical and molecular findings in a Moroccan family with Jervell and Lange-Nielsen syndrome: a case report

Adadi, N., Lahrouchi, N., Bouhouch, R., Fellat, I., Amri, R., Alders, M., Sefiani, A., Bezzina, C., Ratbi, I.

Journal:

Journal of Medical Case Reports

Année:

2017

Langue:

english

Fichier:

PDF, 870 KB

english, 2017

43

High frequency of the recurrent c.1310_1313delAAGABRCA2mutation in the North-East of Morocco and implication for hereditary breast–ovarian cancer prevention and control

Fatima-Zahra Laarabi,Ilham Ratbi,Siham Chafai Elalaoui…

Journal:

BMC Research Notes

Année:

2017

Langue:

english

Fichier:

PDF, 779 KB

english, 2017

44

Tricuspid valve disease associated to rheumatic left valve disease: 1002 cases single-center study

Bennani, H., Moutaki Allah, Y., Ratbi, S., Asfalou, I., Ait Houssa, M.

Journal:

Archives of Cardiovascular Diseases Supplements

Année:

2017

Langue:

english

Fichier:

PDF, 45 KB

english, 2017

45

Marfanoid habitus is a nonspecific feature of Perrault syndrome

Zerkaoui, Maria, Demain, Leigh A.M., Cherkaoui Jaouad, Imane, Ratbi, Ilham, Amjoud, Karima, Urquhart, Jill E., O’Sullivan, James, Newman, William G., Sefiani, Abdelaziz

Journal:

Clinical Dysmorphology

Année:

2017

Langue:

english

Fichier:

PDF, 148 KB

english, 2017

46

Novel nonsense mutation of BRCA2 gene in a Moroccan man with familial breast cancer

Guaoua, S, Ratbi, I, Lyahyai, J, El Alaoui, SC, Laarabi, F, Sefiani, A

Journal:

African Health Sciences

Année:

2014

Langue:

english

Fichier:

PDF, 294 KB

english, 2014

47

La tumeur de Buschke-Lowenstein anorectale : à propos de 16 cas et revue de la littérature

Njoumi, Noureddine, Tarchouli, Mohamed, Ratbi, Moulay Brahim, Elochi, Mohamed Reda, Yamoul, Rajae, Hachi, Hafid, Bougtab, Abdesslam

Journal:

Pan African Medical Journal

Année:

2013

Langue:

french

Fichier:

PDF, 592 KB

french, 2013

48

Analysis of prognostic factors affecting mortality in Fournier’s gangrene: A study of 72 cases

Tarchouli, Mohamed, Bounaim, Ahmed, Essarghini, Mohamed, Ratbi, Moulay Brahim, Belhamidi, Mohamed Said, Bensal, Abdelhak, Zemmouri, Adil, Ali, Abdelmounaim Ait, Sair, Khalid

Journal:

Canadian Urological Association Journal

Année:

2015

Langue:

english

Fichier:

PDF, 205 KB

english, 2015

49

Post-mortem diagnosis of Pompe disease by exome sequencing in a Moroccan family: a case report

Adadi, Najlae, Sahli, Maryem, Egéa, Grégory, Ratbi, Ilham, Taoudi, Mohamed, Zniber, Layla, Jdioui, Wafaa, El Mouatassim, Said, Sefiani, Abdelaziz

Journal:

Journal of Medical Case Reports

Année:

2018

Langue:

english

Fichier:

PDF, 947 KB

english, 2018

50

Tumeur stromale du mésentère: une cause inhabituelle d’une masse abdominale

Tarchouli, Mohamed, Bounaim, Ahmed, Boudhas, Adil, Ratbi, Moulay Brahim, Ndjota, Bobby Nguele, Ali, Abdelmounaim Ait, Sair, Khalid

Journal:

Pan African Medical Journal

Année:

2015

Langue:

french

Fichier:

PDF, 810 KB

french, 2015