Impact of BRAF, MLH1 on the incidence of microsatellite instability high colorectal cancer in populations based study
Brim, Hassan, Mokarram, Pooneh, Naghibalhossaini, Fakhraddin, Saberi-Firoozi, Mehdi, Al-Mandhari, Mansour, Al-Mawaly, Kamla, Al-Mjeni, Rayhaneh, Al-Sayegh, Abeer, Raeburn, Sandy, Lee, Edward, Giardiello, Francis, Smoot, Duane T, Vilkin, Alexander, Boland, C Richard, Goel, Ajay, Hafezi, Mitra, Nouraie, Mehdi, Ashktorab, Hassan
Published in Molecular cancer (21.08.2008)
Published in Molecular cancer (21.08.2008)
Get full text
Journal Article
Seizures as an Atypical Feature of Beal's Syndrome
Jaman , Nazreen B. K, Al-Sayegh , Abeer
Published in Sultan Qaboos University medical journal (01.08.2016)
Published in Sultan Qaboos University medical journal (01.08.2016)
Get full text
Journal Article
Targeted methylation testing of a patient cohort broadens the epigenetic and clinical description of imprinting disorders
Poole, Rebecca L., Docherty, Louise E., Al Sayegh, Abeer, Caliebe, Almuth, Turner, Claire, Baple, Emma, Wakeling, Emma, Harrison, Lucy, Lehmann, Anna, Temple, I. Karen, Mackay, Deborah J.G.
Published in American journal of medical genetics. Part A (01.09.2013)
Published in American journal of medical genetics. Part A (01.09.2013)
Get full text
Journal Article
Uptake of prenatal genetic diagnosis and termination of pregnancy by Omani Muslim families at risk of genetic disorders: experience over a 9-year period
Bruwer, Zandré, Al Ubaidani, Salwa, Al Kharusi, Khalsa, Al Murshedi, Fathiya, Al-Maawali, Almundher, Al Sayegh, Abeer, Al Kindy, Adila, Al Riyami, Nihal, Al Dughaishi, Tamima, Al Salmani, Mouza, Al Hashmi, Nadia, Al Shehhi, Maryam, Al Fahdi, Badriya, Al Amri, Sumaya, Al-Thihli, Khalid
Published in Journal of community genetics (01.06.2022)
Published in Journal of community genetics (01.06.2022)
Get full text
Journal Article
Coexistence of autism spectrum disorders among three children with tuberous sclerosis complex : case reports and review of literature
al-Futaisi, Aminah, al-Sayigh, Abir, al-Muammari, Watfah Said, Idris, Ahmad
Published in Sultan Qaboos University medical journal (01.11.2016)
Published in Sultan Qaboos University medical journal (01.11.2016)
Get full text
Journal Article
PDZD8 Disruption Causes Cognitive Impairment in Humans, Mice, and Fruit Flies
Al-Amri, Ahmed H., Armstrong, Paul, Amici, Mascia, Ligneul, Clemence, Rouse, James, El-Asrag, Mohammed E., Pantiru, Andreea, Vancollie, Valerie E., Ng, Hannah W.Y., Ogbeta, Jennifer A., Goodchild, Kirstie, Ellegood, Jacob, Lelliott, Christopher J., Mullins, Jonathan G.L., Bretman, Amanda, Al-Ali, Ruslan, Beetz, Christian, Al-Gazali, Lihadh, Al Shamsi, Aisha, Lerch, Jason P., Mellor, Jack R., Al Sayegh, Abeer, Ali, Manir, Inglehearn, Chris F., Clapcote, Steven J.
Published in Biological psychiatry (1969) (15.08.2022)
Published in Biological psychiatry (1969) (15.08.2022)
Get full text
Journal Article
Inborn errors of metabolism in a cohort of pregnancies with non-immune hydrops fetalis: a single center experience
Bruwer, Zandrè, Al Riyami, Nihal, Al Dughaishi, Tamima, Al Murshedi, Fathiya, Al Sayegh, Abeer, Al Kindy, Adila, Meftah, Douja, Al Kharusi, Khalsa, Al Foori, Amel, Al Yarubi, Naeema, Scott, Patrick, Al-Thihli, Khalid
Published in Journal of perinatal medicine (01.12.2018)
Published in Journal of perinatal medicine (01.12.2018)
Get full text
Journal Article
A novel mutation in DDR2 causing spondylo-meta-epiphyseal dysplasia with short limbs and abnormal calcifications (SMED-SL) results in defective intra-cellular trafficking
Al-Kindi, Adila, Kizhakkedath, Praseetha, Xu, Huifang, John, Anne, Sayegh, Abeer Al, Ganesh, Anuradha, Al-Awadi, Maha, Al-Anbouri, Lamya, Al-Gazali, Lihadh, Leitinger, Birgit, Ali, Bassam R
Published in BMC genetics (11.04.2014)
Published in BMC genetics (11.04.2014)
Get full text
Journal Article
Re: Coexistence of Autism Spectrum Disorders among Three Children with Tuberous Sclerosis Complex : Case Reports and Review of Literature = رد : حدوث اضطراب طيف التوحد واضطراب التصلب الدرني في وقت واحد في ثلاثة أطفال : تقارير حالة ومراجعة الأدبيات
Al-Futaisi , Amna, Al-Mendalawi , Mahmood D, Idris , Ahmed, Al-Mamari , Watfa S, Al-Sayegh , Abeer
Published in Sultan Qaboos University medical journal (03.01.2017)
Published in Sultan Qaboos University medical journal (03.01.2017)
Get full text
Journal Article
Coexistence of Autism Spectrum Disorders among Three Children with Tuberous Sclerosis Complex: Case Reports and Review of Literature = حدوث اضطراب طيف التوحد واضطراب التصلب الدرني في وقت واحد في ثلاثة أطفال : تقارير حالات ومراجعة الأدبيات
Al-Futaisi , Amna, Idris , Ahmed, Al-Mamari , Watfa S, Al-Sayegh , Abeer
Published in Sultan Qaboos University medical journal (11.01.2016)
Published in Sultan Qaboos University medical journal (11.01.2016)
Get full text
Journal Article
A rare thyroid hormone receptor beta (THRβ) gene mutation in a 15-year-old girl with thyroid hormone resistance syndrome: a case report
El Shafie, Kawther, Ouhtit, Allal, Al Farsi, Yousuf, Al Sayegh, Abeer, Al Shafaee, Mohammed
Published in Journal of medical case reports (06.01.2014)
Published in Journal of medical case reports (06.01.2014)
Get full text
Journal Article