No
|
Title
|
Authors
|
Corresponding Author & Contact
|
1
|
Artificial Intelligence in Rare Disease.
|
Radhakrishnan Mahalingam
|
Radhakrishnan Mahalingam RMahalingam@hamad.qa
|
2
|
Variable clinical presentations of 30 patients with dihydrolipomide dehydrogenase (DLD) deficiency due to homozygous c.685G>T mutation
|
Al-Sulaiman R, Shahbeck N, Al-Kaabi S, Derbala M, Al-Dewik N, Al-Mureikhi M, Ali R, Al-Mesaifri
F, Mahmoud L, Al-Mulla M, El-Akouri K, Musa S, Othman A, Derbala M, Makhseed N, Ben-Omran, T
|
Dr. Reem Jawad A A Al Sulaiman RAlSulaiman@hamad.qa
|
3
|
Clinical exome sequencing in 508 Middle Eastern families with Mendelian diseases provides a high diagnostic yield and discovery of novel genes
|
Reem Alsulaiman, Nader Al-Dewik; Howaida Mohd; Mariam Al-mureikhi; Rehab Ali; Fatma Al-mesaifri; Laila Mahmoud; Noora Shahbeck; Karen El Akouri; Mariam Almulla; Sara Musa; Gabriele Richard; Jane Juusola; Fowzan Alkuraya; Tawfeg Ben-omran
|
Dr. Reem Jawad A A Al Sulaiman RAlSulaiman@hamad.qa
|
4
|
Identifying Lynch syndrome in two families with classical hereditary breast and ovarian cancer syndrome phenotype: A case report
|
Salha Bujassoum, Reem Alsulaiman, Hind Elmalik, Kulssom Junejo, Ahmed Mahfouz, Hanan Farghaly
|
Dr. Salha Bujassoum
sbujassoum@hamad.qa
|
5
|
Cancer genetics program in Qatar: Data on Common and Rare cancer syndromes
|
Salha Bujassoum, Reem Alsulaiman, Hekmet Bugrein, Tawfeg Ben Omran, Fatemeh Abbaszadeh, Nawal Bakheet, Sitti Apsa kusasi, Nema Abdou, Benjamin Solomon, Hafedh Ghazouani
|
Dr. Salha Bujassoum
sbujassoum@hamad.qa
|
6
|
Qatar’s Experience with the Hereditary Breast and Ovarian Cancer and High Risk Clinic: A retrospective study 2013-2016
|
Salha Bujassoum, Hekmet Bugrein, Reem Al-Sulaiman, Hafedh Ghazouani
|
Dr. Salha Bujassoum sbujassoum@hamad.qa
|