Hakutulokset - Al-gazali, Lihadh

Genetic disorders in the Arab world Tekijä Al-Gazali, Lihadh, Hamamy, Hanan, Al-Arrayad, Shaikha

Hae kokoteksti Hae kokoteksti Hae kokoteksti

Degradation routes of trafficking-defective VLDLR mutants associated with Dysequilibrium syndrome Tekijä Kizhakkedath, Praseetha, John, Anne, Al-Gazali, Lihadh, Ali, Bassam R.

Hae kokoteksti Hae kokoteksti Hae kokoteksti

Further Delineation of the Microcephaly-Micromelia Syndrome Associated with Loss-of-Function Variants in DONSON Tekijä Abdelrahman, Hanadi A., John, Anne, Ali, Bassam R., Al-Gazali, Lihadh

Hae kokoteksti Hae kokoteksti Hae kokoteksti

Pharmaceutical Chaperones and Proteostasis Regulators in the Therapy of Lysosomal Storage Disorders: Current Perspective and Future Promises Tekijä Mohamed, Fedah E., Al-Gazali, Lihadh, Al-Jasmi, Fatma, Ali, Bassam R.

Hae kokoteksti Hae kokoteksti Hae kokoteksti

A novel de novo mutation in DYNC1H1 gene underlying malformation of cortical development and cataract Tekijä Hertecant, Jozef, Komara, Makanko, Nagi, Aslam, Suleiman, Jehan, Al-Gazali, Lihadh, Ali, Bassam R.

Hae kokoteksti Hae kokoteksti Hae kokoteksti

Endoplasmic reticulum quality control of LDLR variants associated with familial hypercholesterolemia Tekijä Kizhakkedath, Praseetha, John, Anne, Al‐Sawafi, Buthaina K., Al‐Gazali, Lihadh, Ali, Bassam R.

Hae kokoteksti Hae kokoteksti Hae kokoteksti

A Novel SLC1A4 Mutation (p.Y191*) Causes Spastic Tetraplegia, Thin Corpus Callosum, and Progressive Microcephaly (SPATCCM) With Seizure Disorder Tekijä Abdelrahman, Hanadi A., Al-Shamsi, Aisha, John, Anne, Ali, Bassam R., Al-Gazali, Lihadh

Hae kokoteksti Hae kokoteksti Hae kokoteksti

Normal glycosylation screening does not rule out SRD5A3-CDG Tekijä Mohamed, Miski, Cantagrel, Vincent, Al-Gazali, Lihadh, Wevers, Ron A, Lefeber, Dirk J, Morava, Eva

Hae kokoteksti Hae kokoteksti Hae kokoteksti

A mutation in KIF7 is responsible for the autosomal recessive syndrome of macrocephaly, multiple epiphyseal dysplasia and distinctive facial appearance Tekijä Ali, Bassam R, Silhavy, Jennifer L, Akawi, Nadia A, Gleeson, Joseph G, Al-Gazali, Lihadh

Hae kokoteksti Hae kokoteksti Hae kokoteksti

A missense founder mutation in VLDLR is associated with Dysequilibrium Syndrome without quadrupedal locomotion Tekijä Ali, Bassam R, Silhavy, Jennifer L, Gleeson, Matthew J, Gleeson, Joseph G, Al-Gazali, Lihadh

Hae kokoteksti Hae kokoteksti Hae kokoteksti

LINS, a modulator of the WNT signaling pathway, is involved in human cognition Tekijä Akawi, Nadia A, Al-Jasmi, Fatma, Al-Shamsi, Aisha M, Ali, Bassam R, Al-Gazali, Lihadh

Hae kokoteksti Hae kokoteksti Hae kokoteksti

Mutation spectrum of Joubert syndrome and related disorders among Arabs Tekijä Ben-Salem, Salma, Al-Shamsi, Aisha M, Gleeson, Joseph G, Ali, Bassam R, Al-Gazali, Lihadh

Hae kokoteksti Hae kokoteksti Hae kokoteksti

Mutation spectrum of Joubert syndrome and related disorders among Arabs Tekijä Ben-Salem, Salma, Al-Shamsi, Aisha M, Gleeson, Joseph G, Ali, Bassam R, Al-Gazali, Lihadh

Hae kokoteksti Hae kokoteksti Hae kokoteksti

Homozygosity Mapping in Families with Joubert Syndrome Identifies a Locus on Chromosome 9q34.3 and Evidence for Genetic Heterogeneity Tekijä Saar, Kathrin, Al-Gazali, Lihadh, Sztriha, László, Rueschendorf, Franz, Nur-E-Kamal, Mohammed, Reis, André, Bayoumi, Riad

Hae kokoteksti Hae kokoteksti

Molecular and clinical analysis of Ellis-van Creveld syndrome in the United Arab Emirates Tekijä Ali, Bassam R, Akawi, Nadia A, Chedid, Faris, Bakir, Mahmood, Ur Rehman, Moghis, Rahmani, Aiman, Al-Gazali, Lihadh

Hae kokoteksti Hae kokoteksti Hae kokoteksti

Trafficking defects and loss of ligand binding are the underlying causes of all reported DDR2 missense mutations found in SMED-SL patients Tekijä Ali, Bassam R., Xu, Huifang, Akawi, Nadia A., John, Anne, Karuvantevida, Noushad S., Langer, Ruth, Al-Gazali, Lihadh, Leitinger, Birgit

Hae kokoteksti Hae kokoteksti Hae kokoteksti

Clathrin heavy chain 22 contributes to the control of neuropeptide degradation and secretion during neuronal development Tekijä Nahorski, Michael S., Borner, Georg H. H., Shaikh, Samiha S., Davies, Alexandra K., Al-Gazali, Lihadh, Antrobus, Robin, Woods, C. Geoffrey

Hae kokoteksti Hae kokoteksti Hae kokoteksti

Asparagine synthetase deficiency detected by whole exome sequencing causes congenital microcephaly, epileptic encephalopathy and psychomotor delay Tekijä Ben-Salem, Salma, Gleeson, Joseph G., Al-Shamsi, Aisha M., Islam, Barira, Hertecant, Jozef, Ali, Bassam R., Al-Gazali, Lihadh

Hae kokoteksti Hae kokoteksti Hae kokoteksti

A homozygous splicing mutation in ELAC2 suggests phenotypic variability including intellectual disability with minimal cardiac involvement Tekijä Akawi, Nadia A., Ben-Salem, Salma, Hertecant, Jozef, John, Anne, Pramathan, Thachillath, Kizhakkedath, Praseetha, Ali, Bassam R., Al-Gazali, Lihadh

Hae kokoteksti Hae kokoteksti Hae kokoteksti

VKORC1 variants as significant predictors of warfarin dose in Emiratis Tekijä Al-Mahayri, Zeina N, Al Jaibeji, Hayat S, Saab, Yolande, Soliman, Karem, Al-Gazali, Lihadh, Patrinos, George P, Ali, Bassam R

Hae kokoteksti Hae kokoteksti Hae kokoteksti