Αποτελέσματα αναζήτησης - Al Shamsi, Aisha
- Εμφανίζονται 1 - 20 Αποτελέσματα από 27
- Μετάβαση στην Επόμενη Σελίδα
-
1
-
2
A novel missense heterozygous mutation in MAP3K1 gene causes 46, XY disorder of sex development: case report and literature review από Al Shamsi, Aisha, Al Hassani, Noura, Hamchou, Moustafa, Almazrouei, Raya, Mhanni, Aziz
Έκδοση 2020Κείμενο -
3
-
4
A Novel SLC1A4 Mutation (p.Y191*) Causes Spastic Tetraplegia, Thin Corpus Callosum, and Progressive Microcephaly (SPATCCM) With Seizure Disorder από Abdelrahman, Hanadi A., Al-Shamsi, Aisha, John, Anne, Ali, Bassam R., Al-Gazali, Lihadh
Έκδοση 2019Κείμενο -
5
-
6
Mutation Spectrum and Birth Prevalence of Inborn Errors of Metabolism among Emiratis: A study from Tawam Hospital Metabolic Center, United Arab Emirates από Al-Shamsi, Aisha, Hertecant, Jozef L., Al-Hamad, Sania, Souid, Abdul-Kader, Al-Jasmi, Fatma
Έκδοση 2014Κείμενο -
7
-
8
-
9
-
10
-
11
Asparagine synthetase deficiency detected by whole exome sequencing causes congenital microcephaly, epileptic encephalopathy and psychomotor delay από Ben-Salem, Salma, Gleeson, Joseph G., Al-Shamsi, Aisha M., Islam, Barira, Hertecant, Jozef, Ali, Bassam R., Al-Gazali, Lihadh
Έκδοση 2014Κείμενο -
12
Compound heterozygous variants in the multiple PDZ domain protein (MPDZ) cause a case of mild non-progressive communicating hydrocephalus από Al-Jezawi, Nesreen K., Al-Shamsi, Aisha M., Suleiman, Jehan, Ben-Salem, Salma, John, Anne, Vijayan, Ranjit, Ali, Bassam R., Al-Gazali, Lihadh
Έκδοση 2018Κείμενο -
13
Gonadal Mosaicism in ARID1B Gene Causes Intellectual Disability and Dysmorphic Features in Three Siblings από Ben-Salem, Salma, Sobreira, Nara, Akawi, Nadia A., Al-Shamsi, Aisha M., John, Anne, Pramathan, Thachillath, Valle, David, Ali, Bassam R., Al-Gazali, Lihadh
Έκδοση 2015Κείμενο -
14
Dysfunction of the Cerebral Glucose Transporter SLC45A1 in Individuals with Intellectual Disability and Epilepsy από Srour, Myriam, Shimokawa, Noriaki, Hamdan, Fadi F., Nassif, Christina, Poulin, Chantal, Al Gazali, Lihadh, Rosenfeld, Jill A., Koibuchi, Noriyuki, Rouleau, Guy A., Al Shamsi, Aisha, Michaud, Jacques L.
Έκδοση 2017Κείμενο -
15
Assessment of methylcitrate and methylcitrate to citrate ratio in dried blood spots as biomarkers for inborn errors of propionate metabolism από Al-Dirbashi, Osama Y., Alfadhel, Majid, Al-Thihli, Khalid, Al Dhahouri, Nahid, Langhans, Claus-Dieter, Al Hammadi, Zalikha, Al-Shamsi, Aisha, Hertecant, Jozef, Okun, Jürgen G., Hoffmann, Georg F., Al-Jasmi, Fatma
Έκδοση 2019Κείμενο -
16
Clinical, Biochemical, and Genetic Heterogeneity in Glutaric Aciduria Type II Patients από Ali, Amanat, Almesmari, Fatmah Saeed Ali, Dhahouri, Nahid Al, Saleh Ali, Arwa Mohammad, Aldhanhani, Mohammed Ahmed Ali Mohamed Ahmed, Vijayan, Ranjit, Al Tenaiji, Amal, Al Shamsi, Aisha, Hertecant, Jozef, Al Jasmi, Fatma
Έκδοση 2021Κείμενο -
17
Defect in phosphoinositide signalling through a homozygous variant in PLCB3 causes a new form of spondylometaphyseal dysplasia with corneal dystrophy από Ben-Salem, Salma, Robbins, Sarah M, Sobreira, Nara LM, Lyon, Angeline, Al-Shamsi, Aisha M, Islam, Barira K, Akawi, Nadia A, John, Anne, Thachillath, Pramathan, Hamed, Sania Al, Valle, David, Ali, Bassam R, Al-Gazali, Lihadh
Έκδοση 2017Κείμενο -
18
PDZD8 Disruption Causes Cognitive Impairment in Humans, Mice, and Fruit Flies από 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.
Έκδοση 2022Κείμενο -
19
DYRK1A-related intellectual disability: a syndrome associated with congenital anomalies of the kidney and urinary tract από Blackburn, Alexandria T.M., Bekheirnia, Nasim, Uma, Vanessa C., Corkins, Mark E., Xu, Yuxiao, Rosenfeld, Jill A., Bainbridge, Matthew N., Yang, Yaping, Liu, Pengfei, Madan-Khetarpal, Suneeta, Delgado, Mauricio R., Hudgins, Louanne, Krantz, Ian, Rodriguez-Buritica, David, Wheeler, Patricia G., Al Gazali, Lihadh, Al Shamsi, Aisha Mohamed Saeed Mohamed, Gomez-Ospina, Natalia, Chao, Hsiao-Tuan, Mirzaa, Ghayda M., Scheuerle, Angela E., Kukolich, Mary K, Scaglia, Fernando, Eng, Christine, Willsey, Helen Rankin, Braun, Michael C., Lamb, Dolores J., Miller, Rachel K., Bekheirnia, Mir Reza
Έκδοση 2019Κείμενο -
20
A recurrent, homozygous EMC10 frameshift variant is associated with a syndrome of developmental delay with variable seizures and dysmorphic features από Shao, Diane D., Straussberg, Rachel, Ahmed, Hind, Khan, Amjad, Tian, Songhai, Hill, R. Sean, Smith, Richard S., Majmundar, Amar J., Ameziane, Najim, Neil, Jennifer E., Yang, Edward, Al Tenaiji, Amal, Jamuar, Saumya S., Schlaeger, Thorsten M., Al-Saffar, Muna, Hovel, Iris, Al-Shamsi, Aisha, Basel-Salmon, Lina, Amir, Achiya Z., Rento, Lariza M., Lim, Jiin Ying, Ganesan, Indra, Shril, Shirlee, Evrony, Gilad, Barkovich, A. James, Bauer, Peter, Hildebrandt, Friedhelm, Dong, Min, Borck, Guntram, Beetz, Christian, Al-Gazali, Lihadh, Eyaid, Wafaa, Walsh, Christopher A.
Έκδοση 2021Κείμενο