Majid Alfadhel: search on Z-Library

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51

Utilizing Whole-Exome Sequencing to Characterize the Phenotypic Variability of Sickle Cell Disease

Alsultan, Abdulrahman, Al-Suliman, Ahmed M., Aleem, Aamer, AlGahtani, Farjah H., Alfadhel, Majid

Journal:

Genetic Testing and Molecular Biomarkers

Year:

2018

Language:

english

File:

PDF, 142 KB

english, 2018

52

Enzyme replacement therapy for Fabry disease: some answers but more questions

Sirrs, Sandra, Alfadhel, Majid

Journal:

Therapeutics and Clinical Risk Management

Year:

2011

Language:

english

File:

PDF, 208 KB

english, 2011

53

Aortic calcification in Gaucher disease: a case report

Alsahli, Saud, Bubshait, Dalal K., Rahbeeni, Zuhair A., Alfadhel, Majid

Journal:

The Application of Clinical Genetics

Year:

2018

Language:

english

File:

PDF, 356 KB

english, 2018

54

Extreme intrafamilial variability of Saudi brothers with primary hyperoxaluria type 1

Alfadhel, Majid, Al Hasan,, Alotaibi,, Al Fakeeh,

Journal:

Therapeutics and Clinical Risk Management

Year:

2012

Language:

english

File:

PDF, 407 KB

english, 2012

55

Adenosine Kinase Deficiency: Report and Review

Alhusani, Alhanouf, Obaid, Abdulrahman, Blom, Henk, Wedell, Anna, Alfadhel, Majid

Journal:

Neuropediatrics

Year:

2018

Language:

english

File:

PDF, 138 KB

english, 2018

56

Spectrum of mutations underlying Propionic acidemia and further insight into a genotype-phenotype correlation for the common mutation in Saudi Arabia

Al-Hamed, Mohamed H., Imtiaz, Faiqa, Al-Hassnan, Zuhair, Al-Owain, Mohammed, Al-Zaidan, Hamad, Alamoudi, Mohamed S., Faqeih, Eissa, Alfadhel, Majid, Al-Asmari, Ali, Saleh, M.M., Almutairi, Fuad, Moghr

Journal:

Molecular Genetics and Metabolism Reports

Year:

2019

File:

PDF, 2.24 MB

2019

57

Novel homozygous mutation in the WWOX gene causes seizures and global developmental delay: Report and review

Ehaideb, Salleh N., Al-Bu Ali, Majed J., Al-obaid, Jaafer J., Aljassim, Kareemah M., Alfadhel, Majid

Journal:

Translational Neuroscience

File:

PDF, 229 KB

58

Spectrum of mutations underlying Propionic acidemia and further insight into a genotype-phenotype correlation for the common mutation in Saudi Arabia

Al-Hamed, Mohamed H., Imtiaz, Faiqa, Al-Hassnan, Zuhair, Al-Owain, Mohammed, Al-Zaidan, Hamad, Alamoudi, Mohamed S., Faqeih, Eissa, Alfadhel, Majid, Al-Asmari, Ali, Saleh, M.M., Almutairi, Fuad, Moghr

Journal:

Molecular Genetics and Metabolism Reports

Year:

2019

Language:

english

File:

PDF, 2.24 MB

english, 2019

59

Mutations in ELAC2 associated with hypertrophic cardiomyopathy impair mitochondrial tRNA 3’‐end processing

Saoura, Makenzie, Powell, Christopher A., Kopajtich, Robert, Alahmad, Ahmad, AL‐Balool, Haya H., Albash, Buthaina, Alfadhel, Majid, Alston, Charlotte L., Bertini, Enrico, Bonnen, Penelope, Bratkovic,

Journal:

Year:

2019

Language:

english

File:

PDF, 695 KB

english, 2019

60

Exome sequencing revealed a novel loss‐of‐function variant in the GLI3 transcriptional activator 2 domain underlies nonsyndromic postaxial polydactyly

Umair, Muhammad, Wasif, Naveed, Albalawi, Alia M., Ramzan, Khushnooda, Alfadhel, Majid, Ahmad, Wasim, Basit, Sulman

Journal:

Molecular Genetics & Genomic Medicine

Year:

2019

Language:

english

File:

PDF, 582 KB

english, 2019

61

Multiple Mitochondrial Dysfunctions Syndrome 4 Due to ISCA2 Gene Defects: A Review

Alfadhel, Majid

Journal:

Child Neurology Open

Year:

2019

Language:

english

File:

PDF, 158 KB

english, 2019

62

A Novel Homozygous Non-sense Mutation in the Catalytic Domain of MTHFR Causes Severe 5,10-Methylenetetrahydrofolate Reductase Deficiency

Massadeh, Salam, Umair, Muhammad, Alaamery, Manal, Alfadhel, Majid

Journal:

Frontiers in Neurology

Year:

2019

Language:

english

File:

PDF, 3.08 MB

english, 2019

63

Exome sequencing revealed a novel loss‐of‐function variant in the GLI3 transcriptional activator 2 domain underlies nonsyndromic postaxial polydactyly

Umair, Muhammad, Wasif, Naveed, Albalawi, Alia M., Ramzan, Khushnooda, Alfadhel, Majid, Ahmad, Wasim, Basit, Sulman

Journal:

Molecular Genetics & Genomic Medicine

Year:

2019

File:

PDF, 582 KB

2019

64

Biallelic SCN2A Gene Mutation Causing Early Infantile Epileptic Encephalopathy: Case Report and Review

AlSaif, Shahad, Umair, Muhammad, Alfadhel, Majid

Journal:

Journal of Central Nervous System Disease

Year:

2019

Language:

english

File:

PDF, 174 KB

english, 2019

65

Delta Like-1 Gene Mutation: A Novel Cause of Congenital Vertebral Malformation

Barhoumi, Tlili, Nashabat, Marwan, Alghanem, Bandar, Alhallaj, AlShaimaa, Boudjelal, Mohamed, Umair, Muhammad, Alarifi, Saud, Alfares, Ahmed, Mohrij, Saad A. Al, Alfadhel, Majid

Journal:

Frontiers in Genetics

Year:

2019

File:

PDF, 2.78 MB

2019

66

Assessment of methylcitrate and methylcitrate to citrate ratio in dried blood spots as biomarkers for inborn errors of propionate metabolism

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-

Journal:

Scientific Reports

Year:

2019

Language:

english

File:

PDF, 1.06 MB

english, 2019

67

Carnitine Inborn Errors of Metabolism

Almannai, Mohammed, Alfadhel, Majid, El-Hattab, Ayman W.

Journal:

Year:

2019

Language:

english

File:

PDF, 485 KB

english, 2019

68

Carnitine Inborn Errors of Metabolism

Almannai, Mohammed, Alfadhel, Majid, El-Hattab, Ayman W.

Journal:

Year:

2019

File:

PDF, 485 KB

2019

69

Homozygous missense variant in the TTN gene causing autosomal recessive limb-girdle muscular dystrophy type 10

Khan, Amjad, Wang, Rongrong, Han, Shirui, Umair, Muhammad, Abbas, Safdar, Khan, Muhammad Ismail, Alshabeeb, Mohammad A., Alfadhel, Majid, Zhang, Xue

Journal:

BMC Medical Genetics

Year:

2019

Language:

english

File:

PDF, 2.94 MB

english, 2019

70

Homozygous missense variant in the TTN gene causing autosomal recessive limb-girdle muscular dystrophy type 10

Khan, Amjad, Wang, Rongrong, Han, Shirui, Umair, Muhammad, Abbas, Safdar, Khan, Muhammad Ismail, Alshabeeb, Mohammad A., Alfadhel, Majid, Zhang, Xue

Journal:

BMC Medical Genetics

Year:

2019

File:

PDF, 2.94 MB

2019

71

Proteomic and Molecular Assessment of the Common Saudi Variant in ACADVL Gene Through Mesenchymal Stem Cells

Alfares, Ahmad, Alfadhel, Majid, Mujamammi, Ahmed, Alotaibi, Batoul, Albahkali, Sarah, Al Balwi, Mohammed, Benabdelkamel, Hicham, Masood, Afshan, Ali, Rizwan, Almuaysib, Amani, Al Mahri, Saeed, Mohamm

Journal:

Frontiers in Cell and Developmental Biology

Year:

2020

Language:

english

File:

PDF, 1.89 MB

english, 2020

72

A Missense Mutation in the UGDH Gene Is Associated With Developmental Delay and Axial Hypotonia

Alhamoudi, Kheloud M., Bhat, Javaid, Nashabat, Marwan, Alharbi, Masheal, Alyafee, Yusra, Asiri, Abdulaziz, Umair, Muhammad, Alfadhel, Majid

Journal:

Frontiers in Pediatrics

Year:

2020

File:

PDF, 837 KB

2020

73

A homozygous missense variant in the homeobox domain of the NKX6â2 results in progressive spastic ataxia type 8 associated with lower limb weakness and neurological manifestations

Almatrafi, Ahmad, Umair, Muhammad, Eldardear, Amr, AlâLuqmani, Majid, Hashmi, Jamil A., Albalawi, Alia M., Alfadhel, Majid, Ramzan, Khushnooda, Basit, Sulman

Journal:

The Journal of Gene Medicine

Year:

2020

File:

PDF, 808 KB

2020

74

MEFV c.2230G>T p.(Ala744Ser) rs61732874 previously misclassified as pathogenic variant due to lack of a population specific database

Alsubaie, Lamia, Alkhalaf, Randa, Aloraini, Taghrid, Amoudi, Manal, Swaid, Abdulrahman, Almutairi, Fuad, Alfadhel, Majid, Eyaid1, Wafaa, Sewairi, Wafaa, Alfares, Ahmed

Journal:

Annals of Human Genetics

Year:

2020

File:

PDF, 283 KB

2020

75

Mutated RAP1GDS1 causes a new syndrome of dysmorphic feature, intellectual disability & speech delay

Asiri, Abdulaziz, Aloyouni, Essra, Umair, Muhammad, Alyafee, Yusra, Al Tuwaijri, Abeer, Alhamoudi, Kheloud M., Almuzzaini, Bader, Al Baz, Abeer, Alwadaani, Deemah, Nashabat, Marwan, Alfadhel, Majid

Journal:

Annals of Clinical and Translational Neurology

Year:

2020

File:

PDF, 2.73 MB

2020

76

Biallelic MADD variants cause a phenotypic spectrum ranging from developmental delay to a multisystem disorder

Schneeberger, Pauline E, KortÃ¼m, Fanny, Korenke, Georg Christoph, Alawi, Malik, Santer, RenÃ©, Woidy, Mathias, Buhas, Daniela, Fox, Stephanie, Juusola, Jane, Alfadhel, Majid, Webb, Bryn D, Coci, Eman

Journal:

Year:

2020

File:

PDF, 1.08 MB

2020

77

Biallelic loss-of-function variants in NEMF cause central nervous system impairment and axonal polyneuropathy

Ahmed, Ashfaque, Wang, Meng, Bergant, Gaber, Maroofian, Reza, Zhao, Rongjuan, Alfadhel, Majid, Nashabat, Marwan, AlRifai, Muhammad Talal, Eyaid, Wafaa, Alswaid, Abdulrahman, Beetz, Christian, Qin, Yan

Journal:

Year:

2020

File:

PDF, 7.59 MB

2020

78

Diversity of Phenotype and Genetic Etiology of 23 Cystinuria Saudi Patients: A Retrospective Study

Alghamdi, Malak, Alhasan, Khalid A., Taha Elawad, Areej, Salim, Suha, Abdelhakim, Marwa, Nashabat, Marwan, Raina, Rupesh, Kari, Jameela, Alfadhel, Majid

Journal:

Frontiers in Pediatrics

Year:

2020

File:

PDF, 462 KB

2020