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Author/Creator Rhouma, Bochra Ben

1. A novel C-terminal truncated mutation in hCDKL5 protein causing a severe West syndrome: Comparison with previous truncated mutations and genotype/phenotype correlation. Issue 72 (February 2019)

Authors:
Jdila, Marwa Ben; Triki, Chahnez; Rhouma, Bochra Ben; Jomaa, Rihab Ben; Issa, Abir Ben; Ammar-Keskes, Leila; Kamoun, Fatma; Fakhfakh, Faiza
Journal:
International journal of developmental neuroscience
Issue:
Issue 72(2019:Feb.)
Page Start:
22
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

2. A novel C‐terminal truncated mutation in hCDKL5 protein causing a severe West syndrome: Comparison with previous truncated mutations and genotype/phenotype correlation. Issue 72 (17th September 2018)

Authors:
Jdila, Marwa Ben; Triki, Chahnez; Rhouma, Bochra Ben; Jomaa, Rihab Ben; Issa, Abir Ben; Ammar‐Keskes, Leila; Kamoun, Fatma; Fakhfakh, Faiza
Journal:
International journal of developmental neuroscience
Issue:
Issue 72(2019:Feb.)
Page Start:
22
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

3. Biochemical analyses and molecular modeling explain the functional loss of 17β-hydroxysteroid dehydrogenase 3 mutant G133R in three Tunisian patients with 46, XY Disorders of Sex Development. Issue 155 (January 2016)

Authors:
Engeli, Roger T.; Rhouma, Bochra Ben; Sager, Christoph P.; Tsachaki, Maria; Birk, Julia; Fakhfakh, Faiza; Keskes, Leila; Belguith, Neila; Odermatt, Alex
Journal:
Journal of steroid biochemistry and molecular biology
Issue:
Issue 155 Part A(2016)
Page Start:
147
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗