Al Balwi, Mohamed : rechercher sur Z-Library

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1

Differential Gene Expression in Peripheral White Blood Cells with Permissive Underfeeding and Standard Feeding in Critically Ill Patients: A Descriptive Sub-study of the PermiT Randomized Controlled Trial

Arabi, Yaseen M., Al-Balwi, Mohammed, Hajeer, Ali H., Jawdat, Dunia, Sadat, Musharaf, Al-Dorzi, Hasan M., Tamim, Hani, Afesh, Lara, Almashaqbeh, Walid, Alkadi, Haitham, Alwadaani, Deemah, UdayaRaja, G

Journal:

Scientific Reports

Année:

2018

Langue:

english

Fichier:

PDF, 1.21 MB

english, 2018

2

A Report of Two cases of Al-Awadi Raas-Rothschild Syndrome (AARRS) supporting that “Apparent” Phocomelia differentiates AARRS from Schinzel Phocomelia Syndrome (SPS)

AlQattan, Mohammad M., AlAbdulkareem, Ibrahim, Ballow, Mariam, Al Balwi, Mohammed

Journal:

Année:

2013

Langue:

english

Fichier:

PDF, 981 KB

english, 2013

3

Thirteen year retrospective review of the spectrum of inborn errors of metabolism presenting in a tertiary center in Saudi Arabia

Alfadhel, Majid, Benmeakel, Mohammed, Hossain, Mohammad Arif, Al Mutairi, Fuad, Al Othaim, Ali, Alfares, Ahmed A., Al Balwi, Mohammed, Alzaben, Abdullah, Eyaid, Wafaa

Journal:

Orphanet Journal of Rare Diseases

Année:

2016

Langue:

english

Fichier:

PDF, 410 KB

english, 2016

4

Histopathology of Middle East respiratory syndrome coronovirus (MERS-CoV) infection - clinicopathological and ultrastructural study

Alsaad, Khaled O., Hajeer, Ali H., Al Balwi, Mohammed, Al Moaiqel, Mohammed, Al Oudah, Nourah, Al Ajlan, Abdulaziz, AlJohani, Sameera, Alsolamy, Sami, Gmati, Giamal E., Balkhy, Hanan, Al-Jahdali, Hamd

Journal:

Année:

2017

Langue:

english

Fichier:

PDF, 2.73 MB

english, 2017

5

A novel homozygous missense mutation (c.610G>A, p.Gly204Ser) in the WNT7A gene causes tetra-amelia in two Saudi families

Wafaa Eyaid, Mohammad M. Al-Qattan, Ibrahim Al Abdulkareem, Nouf Fetaini, Mohammed Al Balwi

Journal:

American Journal of Medical Genetics Part A

Année:

2011

Langue:

english

Fichier:

PDF, 433 KB

english, 2011

6

Novel human pathological mutations

Al Balwi Mohammed, Eyaid Wafaa, Al Abdulkareem Ibrahim

Journal:

Année:

2009

Fichier:

PDF, 72 KB

2009

7

Homozygosity for a Missense Mutation in SERPINH1, which Encodes the Collagen Chaperone Protein HSP47, Results in Severe Recessive Osteogenesis Imperfecta

Helena E. Christiansen, Ulrike Schwarze, Shawna M. Pyott, Abdulrahman AlSwaid, Mohammed Al Balwi, Shatha Alrasheed, Melanie G. Pepin, Mary Ann Weis, David R. Eyre, Peter H. Byers

Journal:

The American Journal of Human Genetics

Année:

2010

Langue:

english

Fichier:

PDF, 869 KB

english, 2010

8

A novel mutation in the SHH long-range regulator (ZRS) is associated with preaxial polydactyly, triphalangeal thumb, and severe radial ray deficiency

Mohammad M. Al-Qattan, Ibrahim Al Abdulkareem, Yazied Al Haidan, Mohammed Al Balwi

Journal:

American Journal of Medical Genetics Part A

Année:

2012

Langue:

english

Fichier:

PDF, 343 KB

english, 2012

9

Alteration of Fatty-Acid-Metabolizing Enzymes Affects Mitochondrial Form and Function in Hereditary Spastic Paraplegia

Christelle Tesson, Magdalena Nawara, Mustafa A.M. Salih, Rodrigue Rossignol, Maha S. Zaki, Mohammed Al Balwi, Rebecca Schule, Cyril Mignot, Emilie Obre, Ahmed Bouhouche, Filippo M. Santorelli, Christe

Journal:

The American Journal of Human Genetics

Année:

2012

Langue:

english

Fichier:

PDF, 1.21 MB

english, 2012

10

The Genetic Basis of a Craniofacial Disease Provides Insight into COPII Coat Assembly

J. Christopher Fromme, Mariella Ravazzola, Susan Hamamoto, Mohammed Al-Balwi, Wafaa Eyaid, Simeon A. Boyadjiev, Pierre Cosson, Randy Schekman, Lelio Orci

Journal:

Developmental Cell

Année:

2007

Langue:

english

Fichier:

PDF, 2.19 MB

english, 2007

11

Novel point mutations and mutational complexes in the enhancer II, core promoter and precore regions of hepatitis B virus genotype D1 associated with hepatocellular carcinoma in Saudi Arabia

Khan, Anis, Al Balwi, Mohammed A., Tanaka, Yasuhito, Hajeer, Ali, Sanai, Faisal M., Al Abdulkarim, Ibrahim, Al Ayyar, Latifah, Badri, Motasim, Saudi, Dib, Tamimi, Waleed, Mizokami, Masashi, Al Knawy,

Journal:

International Journal of Cancer

Année:

2013

Langue:

english

Fichier:

PDF, 168 KB

english, 2013

12

Transaldolase deficiency: report of 12 new cases and further delineation of the phenotype

Eyaid, Wafaa, Al Harbi, Talal, Anazi, Shamsa, Wamelink, Mirjam M. C., Jakobs, Cornelis, Al Salammah, Mohammad, Al Balwi, Mohammed, Alfadhel, Majid, Alkuraya, Fowzan S.

Journal:

Journal of Inherited Metabolic Disease

Année:

2013

Langue:

english

Fichier:

PDF, 461 KB

english, 2013

13

The unclassified variant: c.2044AD>G, p.T682A (het.) in exon 12 of the GLI3 gene in a patient with oral-facial-digital syndrome type II (Mohr syndrome) phenotype

Al-Qattan, Mohammad M., Al Balwi, Mohammed A.

Journal:

Année:

2013

Langue:

english

Fichier:

PDF, 280 KB

english, 2013

14

139-P

Hajeer, Ali H., Al Balwi, Mohammed A., Uyar, Aytül F., Al Jumah, Mohammed A.

Journal:

Human Immunology

Année:

2013

Langue:

english

Fichier:

PDF, 30 KB

english, 2013

15

82-P

Jawdat, Dunia, Alarifi, Muhannad, Al-Turki, Abdulrahman, Alalwan, Abdulaziz, Al-Amro, Faisal, Atallah, Noura, Muallimi, Meshal Al, Al-Balwi, Mohammed, Hajeer, Ali

Journal:

Human Immunology

Année:

2013

Langue:

english

Fichier:

PDF, 29 KB

english, 2013

16

Molecular Diagnosis of Fragile X Syndrome Using Methylation Sensitive Techniques in a Cohort of Patients With Intellectual Disability

Chaudhary, Adeel G., Hussein, Ibtessam R., Abuzenadah, Adel, Gari, Mamdouh, Bassiouni, Randa, Sogaty, Samira, Lary, Sahira, Al-Quaiti, Maha, Al Balwi, Mohammed, Al Qahtani, Mohammed

Journal:

Pediatric Neurology

Année:

2014

Langue:

english

Fichier:

PDF, 2.36 MB

english, 2014

17

Liebenberg syndrome is caused by a deletion upstream to the PITX1 gene resulting in transformation of the upper limbs to reflect lower limb characteristics

Al-Qattan, Mohammad M., Al-Thunayan, Abdullah, AlAbdulkareem, Ibrahim, Al Balwi, Mohammed

Journal:

Année:

2013

Langue:

english

Fichier:

PDF, 1.17 MB

english, 2013

18

Familial Glucocorticoid Deficiency in Five Arab Kindreds with Homozygous Point Mutations of the ACTH Receptor (MC2R): Genotype and Phenotype Correlations

al Kandari, Hessa M., Katsumata, Noriyuki, al Alwan, Ibrahim, al Balwi, Mohammed, Rasoul, Majedah S. Abdul

Journal:

Hormone Research in Paediatrics

Année:

2011

Langue:

english

Fichier:

PDF, 330 KB

english, 2011

19

Homozygous R396H mutation of the RAG1 gene in a Saudi infant with Omenn's syndrome: a case report

Al Balwi, Mohammed, Al Ajaji, Sulaiman, Al Abdulkareem, Ibrahim, Hajeer, Ali

Journal:

Année:

2009

Langue:

english

Fichier:

PDF, 260 KB

english, 2009

20

Two novel homozygous missense mutations in the GDF5 gene cause brachydactyly type C

Al-Qattan, Mohammad M., Al-Motairi, Muhammed I., Al Balwi, Mohammed A.

Journal:

American Journal of Medical Genetics Part A

Année:

2015

Langue:

english

Fichier:

PDF, 1.79 MB

english, 2015

21

Novel frameshift mutations in ADAMTS13 in two families with hereditary thrombotic thrombocytopenic purpura

Alsultan, Abdulrahman, Jarrar, Mohammed, Al-Harbi, Talal, AL Balwi, Mohammed

Journal:

Pediatric Blood & Cancer

Année:

2013

Langue:

english

Fichier:

PDF, 1.46 MB

english, 2013

22

Congenital Duplication of the Palm Syndrome

Al-Qattan, M M., Eyaid, Wafaa, Al-Balwi, Mohammed

Journal:

Annals of Plastic Surgery

Année:

2007

Langue:

english

Fichier:

PDF, 292 KB

english, 2007

23

Rare Focal Deletions Involving SNRPN and UBE3A Genes

Meck, Jeanne, Pineda-Alvarez, Daniel, Huang, Dongli, Braddock, Stephen, Al Balwi, Mohammed, Niet, Jessica, Valdez, Brenda Cristina Rios, McKnight, Dianalee, Downtain, Courtney, Pai, G. Shashidhar, deH

Journal:

Cancer Genetics

Année:

2016

Langue:

english

Fichier:

PDF, 37 KB

english, 2016

24

Haploinsufficiency of the E3 ubiquitin-protein ligase geneTRIP12causes intellectual disability with or without autism spectrum disorders, speech delay, and dysmorphic features

Zhang, Jing, Gambin, Tomasz, Yuan, Bo, Szafranski, Przemyslaw, Rosenfeld, Jill A., Balwi, Mohammed Al, Alswaid, Abdulrahman, Al-Gazali, Lihadh, Shamsi, Aisha M. Al, Komara, Makanko, Ali, Bassam R., Ro

Journal:

Année:

2017

Langue:

english

Fichier:

PDF, 1.38 MB

english, 2017

25

Analysis of CCR5 gene polymorphisms in 321 healthy Saudis using Next Generation Sequencing

Al Balwi, Mohammed A., Hadadi, Ali I., Alharbi, Wardah, Ballow, Mariam, AlAsiri, Abdulrahman, AlAbdulrahman, Abdulkareem, G.K., Udayaraja, Aldrees, Mohammed, AlAbdulkareem, Ibrahim, Hajeer, Ali H.

Journal:

Human Immunology

Année:

2017

Langue:

english

Fichier:

PDF, 313 KB

english, 2017

26

Tracing the epidemic history of hepatitis C virus genotypes in Saudi Arabia

Khan, Anis, Al Balwi, Mohammed, AlAyyar, Latifah, AlAbdulkareem, Ibrahim, Albekairy, Abdulkareem, Aljumah, Abdulrahman

Journal:

Infection, Genetics and Evolution

Année:

2017

Langue:

english

Fichier:

PDF, 765 KB

english, 2017

27

Erratum to: Haploinsufficiency of the E3 ubiquitin-protein ligase gene TRIP12 causes intellectual disability with or without autism spectrum disorders, speech delay, and dysmorphic features

Zhang, Jing, Gambin, Tomasz, Yuan, Bo, Szafranski, Przemyslaw, Rosenfeld, Jill A., Balwi, Mohammed Al, Alswaid, Abdulrahman, Al-Gazali, Lihadh, Shamsi, Aisha M. Al, Komara, Makanko, Ali, Bassam R., Ro

Journal:

Année:

2017

Langue:

english

Fichier:

PDF, 381 KB

english, 2017

28

1107

Arabi, Yaseen, Jawdat, Dunia, Bouchama, Abderrezak, Tamim, Hani, Tamimi, Waleed, Al-Balwi, Mohammed, Al-Dorzi, Hasan, Sadat, Musharaf, Afesh, Lara, Lehe, Cynthia, Mashaqbeh, Walid, Sakkijha, Maram, Al

Journal:

Critical Care Medicine

Année:

2018

Langue:

english

Fichier:

PDF, 54 KB

english, 2018

29

Coexistence of chronic myeloid leukemia and diffuse large B-cell lymphoma with antecedent chronic lymphocytic leukemia: a case report and review of the literature

Abuelgasim, Khadega A., Rehan, Hinna, Alsubaie, Maha, Al Atwi, Nasser, Al Balwi, Mohammed, Alshieban, Saeed, Almughairi, Areej

Journal:

Journal of Medical Case Reports

Année:

2018

Langue:

english

Fichier:

PDF, 2.02 MB

english, 2018

30

KIF16B is a candidate gene for a novel autosomal-recessive intellectual disability syndrome

Alsahli, Saud, Arold, Stefan T., Alfares, Ahmed, Alhaddad, Bader, Al Balwi, Mohammed, Kamsteeg, Erik-Jan, Al-Twaijri, Waleed, Alfadhel, Majid

Journal:

American Journal of Medical Genetics Part A

Année:

2018

Langue:

english

Fichier:

PDF, 854 KB

english, 2018

31

Isolation and characterization of a new naturally immortalized human breast carcinoma cell line, KAIMRC1

Ali, Rizwan, Samman, Nosaibah, Al Zahrani, Hajar, Nehdi, Atef, Rahman, Sabhi, Khan, Abdul Latif, Al Balwi, Mohamed, Alriyees, Lolwah Abdullah, Alzaid, Manal, Al Askar, Ahmed, Boudjelal, Mohamed

Journal:

Année:

2017

Langue:

english

Fichier:

PDF, 4.18 MB

english, 2017

32

X-linked ichthyosis associated with psychosis and behavioral abnormalities: a case report

Malik, Amna, Amer, Ahmed Bait, Salama, Mohammed, Haddad, Bander, Alrifai, Muhammad T., Balwi, Mohammed Al, Davies, William, Eyaid, Wafaa

Journal:

Journal of Medical Case Reports

Année:

2017

Langue:

english

Fichier:

PDF, 319 KB

english, 2017

33

Permissive underfeeding, cytokine profiles and outcomes in critically ill patients

Arabi, Yaseen, Jawdat, Dunia, Bouchama, Abderrezak, Tamim, Hani, Tamimi, Waleed, Al-Balwi, Mohammed, Al-Dorzi, Hasan M., Sadat, Musharaf, Afesh, Lara, Abdullah, Mashan L., Mashaqbeh, Walid, Sakhija, M

Journal:

Année:

2019

Fichier:

PDF, 1.01 MB

2019

34

Successful transfer from insulin to oral sulfonylurea in a 3-year-old girl with a mutation in the KCNJ11 gene

Al-Mahdi, Maria, Al Mutair, Angham, Al Balwi, Mohammed, Hussain, Khalid

Journal:

Annals of Saudi Medicine

Année:

2010

Fichier:

PDF, 2.13 MB

2010

35

Successful transfer from insulin to oral sulfonylurea in a 3-year-old girl with a mutation in the KCNJ11 gene

Al-Mahdi, Maria, Al Mutair, Angham, Al Balwi, Mohammed, Hussain, Khalid

Journal:

Annals of Saudi Medicine

Année:

2010

Langue:

english

Fichier:

PDF, 2.13 MB

english, 2010

36

Prevalence of BRCA1 and BRCA2 Mutations Among High-Risk Saudi Patients With Breast Cancer

Abulkhair, Omalkhair, Al Balwi, Mohammed, Makram, Ola, Alsubaie, Lamia, Faris, Medhat, Shehata, Hussam, Hashim, Ahmed, Arun, Banu, Saadeddin, Ahmed, Ibrahim, Ezzeldin

Journal:

Journal of Global Oncology

Année:

2018

Langue:

english

Fichier:

PDF, 751 KB

english, 2018

37

A novel interstitial deletion of chromosome 2q21.1âq23.3: Case report and literature review

Almuzzaini, Bader, Alatwi, Nasser S., Alsaif, Saif, Al Balwi, Mohammed A.

Journal:

Molecular Genetics & Genomic Medicine

Année:

2020

Langue:

english

Fichier:

PDF, 482 KB

english, 2020

38

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

Année:

2020

Langue:

english

Fichier:

PDF, 1.89 MB

english, 2020

39

Exome sequencing revealed DNA variants in NCOR1, IGF2BP1, SGLT2 and NEK11 as potential novel causes of ketotic hypoglycemia in children

Alhaidan, Yazeid, Larsen, Martin J., Schou, Anders JÃ¸rgen, Stenlid, Maria H., Al Balwi, Mohammed A., Christesen, Henrik Thybo, Brusgaard, Klaus

Journal:

Scientific Reports

Année:

2020

Fichier:

PDF, 1.49 MB

2020

40

Late-onset multiple venous malformations confined to the upper limb: link to somatic MAP3K3 mutations

Al-Qattan, Mohammed M., Al-Balwi, Mohammed A., Al-Zayed, Ebtehal M., Al-Sohaibani, Mohammed, Gelidan, Adnan G., Alsheiban, Saeed

Journal:

The Journal of Hand Surgery (Asian-Pacific Volume)

Année:

2020

Fichier:

PDF, 603 KB

2020

41

Peeling of skin as presenting manifestation in congenital disorders of glycosylation

Almutairi, Meshal, AlâKhenaizan, Sultan, Al Sufiani, Fahd, Al Balwi, Mohammed, Al Mutairi, Fuad

Journal:

The Journal of Dermatology

Année:

2020

Fichier:

PDF, 4.22 MB

2020

42

A novel gene in early childhood diabetes: EDEM2 silencing decreases SLC2A2 and PXD1 expression, leading to impaired insulin secretion

Alhaidan, Yazeid, Christesen, Henrik Thybo, HÃ¸jlund, Kurt, Al Balwi, Mohammed A., Brusgaard, Klaus

Journal:

Molecular Genetics and Genomics

Année:

2020

Fichier:

PDF, 1.10 MB

2020