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Journal of Medical Genetics, ISSN 0022-2593, 08/2012, Volume 49, Issue 8, pp. 502 - 512
Journal Article
by Abdallah, Meya and Abdelaziz, A and Abdelaziz, O and Abdelhedi, Nour and Abdelkbir, Amina and Abdelkefi, Med and Abdelmoula, Leila and Abdennacir, S and Abdennadher, Mahdi and Abidi, H and Abir Hakiri, Abir and Abou El Makarim, Sana and Abouda, M and Achour, Wafa and Aichaouia, C and Aissa, Amina and Aissa, Yosra and Aissi, W and Ajroudi, Meriem and Allouche, Emna and Aloui, Haithem and Aloui, D and Amdouni, Feten and Ammar, Y and Ammara, Y and Ammari, S and Ammous, A and Amous, A and Amri, Adel and Amri, Mohamed and Amri, R and Annabi, H and Antit, Saoussen and Aouadi, Samira and Arfaoui, A and Assadi, Assia and Attia, Lilia and Attia, Moez and Attia, Leila and Ayadi, I and Ayadi Dahmane, Imene and Ayari, Ayari and Azzabi, S and Azzouz, Heifa and B Mefteh, N and B Salah, C and Baccar, Hedi and Bachali, Asma and Bahlouli, M and Bahri, Gada and Baïli, Hassène and Bani, Mejda and Bani, W and Bani, Mohamed Amine and Bassalah, E and Bawandi, R and Bayar, M and Bchir, Najla and Bechraoui, R and Béji, Maher and Beji, Rami and Bel Haj Yahia, D and Belakhel, Syrine and Belfkih, Houda and Belgacem, Olfa and Belgacem, Nesrine and Belhadj, Ahlem and Beltaief, Najeh and Beltaief, N and Ben Abbes, M and Ben Abdelaziz, Ahmed and Ben Ahmed, Imen and Ben Aissia, Nizar and Ben Ali, M and Ben Ammar, Hanen and Ben Ammou, Boutheina and Ben Amor, Anissa and Ben Amor, Mohamed and Benatta, M and Ben Ayed, Nahla and Ben Ayoub, Wided and Ben Charrada, Nejla and Ben Cheikh, Mamoun and Ben Dahmen, Fatma and Ben Dhia, M and Ben Fadhel, Sinda and Ben Farhat, Leila and Ben Fredj Ismail, F and Ben Hamida, Emira and Ben Hamida Nouaili, E and Ben Hammamia, M and Ben Hamouda, Abir and Ben Hassine, L and Ben Hassouna, Ahmed and Ben Hasssen, Asma and Ben Hlima, Manel and Ben Kaab, Badreddine and Ben Mami, Nabyl and Ben Mbarka, Fatma and Ben Mefteh, N and ...
La Tunisie medicale, ISSN 0041-4131, 11/2017, Volume 95, Issue 11, p. 1002
Journal Article
European Journal of Medical Genetics, ISSN 1769-7212, 2018, pp. 103550 - 103550
Galloway-Mowat syndrome (GAMOS [MIM 251300]) is a rare autosomal recessive disorder that manifests as a combination of nephrotic syndrome, brain abnormalities... 
Index Medicus
Journal Article
International Journal of Pediatric Otorhinolaryngology, ISSN 0165-5876, 12/2017, Volume 103, pp. 14 - 19
Waardenburg syndrome (WS) is an auditory-pigmentary disease characterized by a clinical and genetic variability. WS is classified into four types depending on... 
PENETRANCE | DEFECTS | SYNDROME TYPE-I | GENE | OTORHINOLARYNGOLOGY | DISEASE | PEDIATRICS | MITF | CHINESE PATIENTS | FAMILY | Index Medicus
Journal Article
Pan African Medical Journal, ISSN 1937-8688, 06/2015, Volume 21, pp. 110 - 110
Perinatal-lethal Gaucher disease is very rare and is considered a variant of type 2 Gaucher disease that occurs in the neonatal period. The most distinct... 
Hydrops | Gaucher disease | Perinatal form | Lysosomal storage disorder | Ichthyosis - etiology | Hydrops Fetalis - diagnosis | Humans | Arthrogryposis - etiology | Splenomegaly - etiology | Female | Gaucher Disease - physiopathology | Gaucher Disease - diagnosis | Infant, Newborn | Hepatomegaly - etiology | Hydrops Fetalis - etiology | Index Medicus
Journal Article
Journal of the American Society of Nephrology, ISSN 1046-6673, 03/2016, Volume 27, Issue 3, pp. 722 - 729
Journal Article
Journal of Community Genetics, ISSN 1868-310X, 6/2011, Volume 2, Issue 2, pp. 97 - 99
Bardet–Biedl syndrome (BBS, OMIM 209900) is a ciliopathy causing multivisceral abnormalities. This disease is mainly characterized by obesity, post-axial... 
Gene Function | Human Genetics | Biomedicine | Public Health/Gesundheitswesen | Gene Therapy | Epidemiology | Bardet-Biedl syndrome | Diagnosis | Research | Short Communication
Journal Article
Open Journal of Genetics, ISSN 2162-4453, 2014, Volume 4, Issue 5, pp. 385 - 391
Journal Article
Journal Article
La Tunisie medicale, ISSN 0041-4131, 06/2002, Volume 80, Issue 6, p. 334
Subretinal fluid drainage during retinal surgery is a tricky manoeuver that remains controversial. In this study, we carried out a comparative retrospective... 
Retinal Hemorrhage - etiology | Drainage - adverse effects | Humans | Middle Aged | Male | Treatment Outcome | Retinal Detachment - surgery | Patient Selection | Adolescent | Drainage - instrumentation | Drainage - methods | Adult | Female | Aged | Retrospective Studies | Scleral Buckling | Child
Journal Article
Tunisie Medicale, ISSN 0041-4131, 11/2002, Volume 80, Issue 11, pp. 681 - 684
Journal Article
Annales d'Endocrinologie, ISSN 0003-4266, 09/2004, Volume 65, Issue 4, pp. 364 - 365
Journal Article
Annales d'Endocrinologie, ISSN 0003-4266, 2006, Volume 67, Issue 5, pp. 460 - 460
Journal Article
Annales d'Endocrinologie, ISSN 0003-4266, 2006, Volume 67, Issue 5, pp. 505 - 506
Journal Article
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