Z.A. Rahbeeni: search on Z-Library

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1

Identification of Gaucher disease mutations found in Saudi Arabia

Namik Kaya, Fatima Al-Zahrani, Ali Al-Odaib, Zuhair Rahbeeni, Zuhair Al-Hassnan, Fahad Al-Sharif, Pinar Ozand, Moeenaldeen Al-Sayed

Journal:

Blood Cells, Molecules, and Diseases

Year:

2008

Language:

english

File:

PDF, 123 KB

english, 2008

2

The effect of evening primrose oil on the radiation response and blood flow of mouse normal and tumour tissue

Rahbeeni, A. S. Hendrikse, C. M. Sm, F.

Journal:

International Journal of Radiation Biology

Year:

2000

Language:

english

File:

PDF, 202 KB

english, 2000

3

Expanded Newborn Screening Program in Saudi Arabia: Incidence of screened disorders

Alfadhel, Majid, Al Othaim, Ali, Al Saif, Saif, Al Mutairi, Fuad, Alsayed, Moeenaldeen, Rahbeeni, Zuhair, Alzaidan, Hamad, Alowain, Mohammed, Al-Hassnan, Zuhair, Saeedi, Mohamad, Aljohery, Saeed, Alas

Journal:

Journal of Paediatrics and Child Health

Year:

2017

Language:

english

File:

PDF, 690 KB

english, 2017

4

Eradicating primary congenital glaucoma from Saudi Arabia: The case for a national screening program

Malik, Rizwan, Khandekar, Rajiv, Boodhna, Trishal, Rahbeeni, Zuhair, Al Towerki, Abdul Elah, Edward, Deepak P., Abu-Amero, Khaled

Journal:

Saudi Journal of Ophthalmology

Year:

2017

Language:

english

File:

PDF, 235 KB

english, 2017

5

Further delineation of Temtamy syndrome of corpus callosum and ocular abnormalities

Alrakaf, Laila, Al-Owain, Mohammed A., Busehail, Maryam, Alotaibi, Maha A., Monies, Dorota, Aldhalaan, Hesham M., Alhashem, Amal, Al-Hassnan, Zuhair N., Rahbeeni, Zuhair A., Murshedi, Fathiya Al, Ani,

Journal:

American Journal of Medical Genetics Part A

Year:

2018

Language:

english

File:

PDF, 623 KB

english, 2018

6

Rett Syndrome, a Neurodevelopmental Disorder, Whole-Transcriptome, and Mitochondrial Genome Multiomics Analyses Identify Novel Variations and Disease Pathways

Aldosary, Mazhor, Al-Bakheet, AlBandary, Al-Dhalaan, Hesham, Almass, Rawan, Alsagob, Maysoon, Al-Younes, Banan, AlQuait, Laila, Mustafa, Osama Mufid, Bulbul, Mustafa, Rahbeeni, Zuhair, Alfadhel, Majid

Journal:

Omics A Journal of Integrative Biology

Year:

2020

Language:

english

File:

PDF, 438 KB

english, 2020

7

Perturbation of the consensus activation site of endothelin-3 leads to Waardenburg syndrome type IV

Hanan E. Shamseldin, Zuhair Rahbeeni, Fowzan S. Alkuraya

Journal:

American Journal of Medical Genetics Part A

Year:

2010

Language:

english

File:

PDF, 137 KB

english, 2010

8

Improved method to determine succinylacetone in dried blood spots for diagnosis of tyrosinemia type 1 using UPLC-MS/MS

Osama Y. Al-Dirbashi, Mohamed S. Rashed, Minnie Jacob, Lujane Y. Al-Ahaideb, Mohamed Al-Amoudi, Zuhair Rahbeeni, Moeen M. Al-Sayed, Zuhair Al-Hassnan, Mohamed Al-Owain, Hamad Al-Zeidan

Journal:

Biomedical Chromatography

Year:

2008

Language:

english

File:

PDF, 125 KB

english, 2008

9

Determination of urinary S-sulphocysteine, xanthine and hypoxanthine by liquid chromatography–electrospray tandem mass spectrometry

Mohamed S. Rashed, Amal A. A. Saadallah, Zuhair Rahbeeni, Wafaa Eyaid, Mohamed Z. Seidahmed, Saad Al-Shahwan, Mustafa A. M. Salih, Mohammad E. Osman, Mohamed Al-Amoudi, Lujane Al-Ahaidib, Minnie Jacob

Journal:

Biomedical Chromatography

Year:

2005

Language:

english

File:

PDF, 269 KB

english, 2005

10

Tandem mass spectrometric assay of succinylacetone in urine for the diagnosis of hepatorenal tyrosinemia

Mohamed S. Rashed, Lujane Y. Al-Ahaidib, Osama Y. Al-Dirbashi, Mohammad Al Amoudi, Moeen M.A. Al-Sayed, Zuhair Rahbeeni, Zuhair Al-Hassnan, Abeer Al-Dbaas, Mohamed Al-Owain, Michelle Ni Luanaigh

Journal:

Analytical Biochemistry

Year:

2005

Language:

english

File:

PDF, 333 KB

english, 2005

11

NovelFBP1gene mutations in Arab patients with fructose-1,6-bisphosphatase deficiency

Muhammad Faiyaz-Ul-Haque, Mohammed Al-Owain, Fouad Al-Dayel, Zuhair Al-Hassnan, Hamad Al-Zaidan, Zuhair Rahbeeni, Moeen Al-Sayed, Ameera Balobaid, Ahmad Cluntun, Mohamed Toulimat, Hala Abalkhail, Iskr

Journal:

European Journal of Pediatrics

Year:

2009

Language:

english

File:

PDF, 174 KB

english, 2009

12

Infectious complications of propionic acidemia in Saudia Arabia

M. Al. Essa, Z. Rahbeeni, S. Jumaah, S. Joshi, E. Al. Jishi, M. S. Rashed, M. Al. Amoudi, P. T. Ozand

Journal:

Clinical Genetics

Year:

1998

Language:

english

File:

PDF, 903 KB

english, 1998

13

Clinical, biochemical and molecular characterization of peroxisomal diseases in Arabs

R Shaheen, OY Al-Dirbashi, ZN Al-Hassnan, M Al-Owain, N Makhsheed, F Basheeri, MZ Seidahmed, MAM Salih, E Faqih, H Zaidan, M Al-Sayed, Z Rahbeeni, T Al-Sheddi, M Hashem, W Kurdi, N Shimozawa, FS Alkur

Journal:

Clinical Genetics

Year:

2011

Language:

english

File:

PDF, 1.35 MB

english, 2011

14

Impaired DNA synthesis in dermal fibroblasts from Zellweger syndrome patients

G.S. Dhaunsi, Z. Rahbeeni, M. Al-Essa, P.T. Ozand

Journal:

Journal of Inherited Metabolic Disease

Year:

1998

Language:

english

File:

PDF, 66 KB

english, 1998

15

Identification of two novel mutations inOCTN2from two Saudi patients with systemic carnitine deficiency

Z. Rahbeeni, F. M. Vaz, K. Al-Hussein, M. P. Bucknall, J. Ruiter, R. J. Wanders, M. S. Rashed

Journal:

Journal of Inherited Metabolic Disease

Year:

2002

Language:

english

File:

PDF, 142 KB

english, 2002

16

Application of electrospray tandem mass spectrometry to neonatal screening

Mohamed S. Rashed, Zuhair Rahbeeni, Pinar T. Ozand

Journal:

Seminars in Perinatology

Year:

1999

Language:

english

File:

PDF, 919 KB

english, 1999

17

Clinical and molecular findings of 13 families from Saudi Arabia and a family from Sudan with homocystinuria

SHE Zaidi, M Faiyaz-Ul-Haque, T Shuaib, A Balobaid, Z Rahbeeni, H Abalkhail, A Al-Abdullatif, Z Al-Hassnan, I Peltekova, M Al-Owain

Journal:

Clinical Genetics

Year:

2012

Language:

english

File:

PDF, 654 KB

english, 2012

18

Novel mutation in GLRB in a large family with hereditary hyperekplexia

M Al-Owain, D Colak, A Al-Bakheet, N Al-Hashmi, T Shuaib, A Al-Hemidan, H Aldhalaan, Z Rahbeeni, M Al-Sayed, B Al-Younes, PT Ozand, N Kaya

Journal:

Clinical Genetics

Year:

2012

Language:

english

File:

PDF, 791 KB

english, 2012

19

Smith–Lemli–Opitz syndrome among Arabs

M Al-Owain, F Imtiaz, T Shuaib, A Edrees, M Al-Amoudi, N Sakati, Z Al-Hassnan, H Bamashmous, Z Rahbeeni, S Al-Ameer, E Faqeih, B Meyer, A Al-Hashem, W Garout, A Al-Odaib, M Rashed, JY Al-Aama

Journal:

Clinical Genetics

Year:

2012

Language:

english

File:

PDF, 637 KB

english, 2012

20

Quantification of succinylacetone in urine of hepatorenal tyrosinemia patients by HPLC with fluorescence detection

Osama Y. Al-Dirbashi, Minnie Jacob, Lujane Y. Al-Ahaidib, Khaled Al-Qahtani, Zuhair Rahbeeni, M. Al-Owain, Mohamed S. Rashed

Journal:

Clinica Chimica Acta

Year:

2006

Language:

english

File:

PDF, 110 KB

english, 2006

21

Terminal 4q deletion and 8q duplication in a patient with CHARGE-like features

Ola A. Khalifa, Claudia U. Walter, Z.A. Rahbeeni, A. Verloes

Journal:

European Journal of Medical Genetics

Year:

2011

Language:

english

File:

PDF, 399 KB

english, 2011

22

Study of consanguineous populations can improve the annotation of SNP databases

Hanan E. Shamseldin, Mohammed Al-Dosari, Latifa Al-Jbali, Zuhair Rahbeeni, Alya Qari, Mais Hashem, Fowzan S. Alkuraya

Journal:

European Journal of Medical Genetics

Year:

2011

Language:

english

File:

PDF, 445 KB

english, 2011

23

Identification of mutations causing hereditary tyrosinemia type I in patients of Middle Eastern origin

Faiqa Imtiaz, Mohamed S. Rashed, Bashayer Al-Mubarak, Rabab Allam, Hanaa El-Karaksy, Zuhair Al-Hassnan, Mohammed Al-Owain, Hamad Al-Zaidan, Zuhair Rahbeeni, Alya Qari, Brian F. Meyer, Moeen Al-Sayed

Journal:

Molecular Genetics and Metabolism

Year:

2011

Language:

english

File:

PDF, 143 KB

english, 2011

24

Ethylmalonic aciduria: an organic acidemia with CNS involvement and vasculopathy

P.T. Ozand, M. Rashed, D.S. Millington, N. Sakati, S. Hazzaa, Z. Rahbeeni, A. Al Odaib, N. Youssef, A. Mazrou, G.G. Gascon, J. Brismar

Journal:

Brain and Development

Year:

1994

Language:

english

File:

PDF, 1.49 MB

english, 1994

25

Neurophysiologic correlates of organic acidemias: a survey of 107 patients

B. Stigsby, S.M. Yarworth, Z. Rahbeeni, O. Dabbagh, C. de Gier Munk, N. Abdo, J. Brismar, G.G. Gascon, P.T. Ozand

Journal:

Brain and Development

Year:

1994

Language:

english

File:

PDF, 1.74 MB

english, 1994

26

Comparative frequency and severity of hypoglycemia in selected organic acidemias, branched chain amino acidemia, and disorders of fructose metabolism

H.G. Worthen, A. Al Ashwal, P.T. Ozand, S. Garawi, Z. Rahbeeni, A. Al Odaib, S.B. Subramanyam, M. Rashed

Journal:

Brain and Development

Year:

1994

Language:

english

File:

PDF, 521 KB

english, 1994

27

Unusual presentations of propionic acidemia

P.T. Ozand, M. Rashed, G.G. Gascon, N.G. Youssef, H. Harfi, Z. Rahbeeni, S. Al Garawi, A. Al Aqeel

Journal:

Brain and Development

Year:

1994

Language:

english

File:

PDF, 1.69 MB

english, 1994

28

A new patient with α-ketoglutaric aciduria and progressive extrapyramidal tract disease

A. Al Aqeel, M. Rashed, P.T. Ozand, G.G. Gascon, Z. Rahbeeni, S. Al Garawi, A. Al Odaib, J. Brismar

Journal:

Brain and Development

Year:

1994

Language:

english

File:

PDF, 506 KB

english, 1994

29

4-Hydroxybutyric aciduria

Z. Rahbeeni, P.T. Ozand, M. Rashed, G.G. Gascon, M. Al Nasser, A. Al Odaib, M. Amoudi, M. Nester, S. Al Garawi, J. Brismar

Journal:

Brain and Development

Year:

1994

Language:

english

File:

PDF, 1.27 MB

english, 1994

30

Hyperornithinemia–hyperammonemia–homocitrullinuria syndrome with stroke-like imaging presentation: Clinical, biochemical and molecular analysis

Zuhair N. Al-Hassnan, Mohamed S. Rashed, Osama Y. Al-Dirbashi, Zoltan Patay, Zuhair Rahbeeni, Khaled K. Abu-Amero

Journal:

Journal of the Neurological Sciences

Year:

2008

Language:

english

File:

PDF, 722 KB

english, 2008

31

Clinical and biochemical features associated withBCS1Lmutation

Al-Owain, Mohammed, Colak, Dilek, Albakheet, Albandary, Al-Younes, Banan, Al-Humaidi, Zainab, Al-Sayed, Moeen, Al-Hindi, Hindi, Al-Sugair, Abdulaziz, Al-Muhaideb, Ahmed, Rahbeeni, Zuhair, Al-Sehli, Ab

Journal:

Journal of Inherited Metabolic Disease

Year:

2013

Language:

english

File:

PDF, 694 KB

english, 2013

32

Neu-Laxova Syndrome, an Inborn Error of Serine Metabolism, Is Caused by Mutations in PHGDH

Shaheen, Ranad, Rahbeeni, Zuhair, Alhashem, Amal, Faqeih, Eissa, Zhao, Qi, Xiong, Yong, Almoisheer, Agaadir, Al-Qattan, Sarah M., Almadani, Halima A., Al-Onazi, Noufa, Al-Baqawi, Badi S., Saleh, Moham

Journal:

The American Journal of Human Genetics

Year:

2014

Language:

english

File:

PDF, 1.58 MB

english, 2014

33

Sanfilippo Type D Presenting With Acquired Language Disorder but Without Features of Mucopolysaccharidosis

Ozand, P.T., Thompson, J.N., Gascon, G.G., Sarvepalli, S.B., Rahbeeni, Z., Nester, M.J., Brismar, J.

Journal:

Journal of Child Neurology

Year:

1994

Language:

english

File:

PDF, 472 KB

english, 1994

34

Oral–facial–digital syndrome type 1

Khalifa, Ola, Rahbeeni, Zuhair, Alhashmi, Nadia, Almane, Khalid

Journal:

Clinical Dysmorphology

Year:

2012

Language:

english

File:

PDF, 137 KB

english, 2012

35

Zeliweger Syndrome in Saudi Arabia and Its Distinct Features

Al-Essa, M., Dhaunsi, G. S., Rashed, M., Ozand, P. T., Rahbeeni, Z.

Journal:

Clinical Pediatrics

Year:

1999

Language:

english

File:

PDF, 5.80 MB

english, 1999

36

Expanding Phenotypic and Allelic Heterogeneity of Tricho-Hepato-Enteric Syndrome

Monies, Dorota M., Rahbeeni, Zuhair, Abouelhoda, Mohamed, Naim, Ewa A., Al-Younes, Banan, Meyer, Brian F., Al-Mehaidib, Ali

Journal:

Journal of Pediatric Gastroenterology & Nutrition

Year:

2015

Language:

english

File:

PDF, 212 KB

english, 2015

37

Prognostic factors and prenatal management in non immune hydrops fetalis are still a dilemma

Rejjal, Abdellatif R. A., Rahbeeni, Zuhair, Al-Zahrani, Afaf-Farouk

Journal:

Journal of Perinatal Medicine

Year:

1996

Language:

english

File:

PDF, 965 KB

english, 1996

38

A substitution mutation in cardiac ubiquitin ligase, FBXO32, is associated with an autosomal recessive form of dilated cardiomyopathy

Al-Hassnan, Zuhair N., Shinwari, Zarghuna MA., Wakil, Salma M., Tulbah, Sahar, Mohammed, Shamayel, Rahbeeni, Zuhair, Alghamdi, Mohammed, Rababh, Monther, Colak, Dilek, Kaya, Namik, Al-Fayyadh, Majid,

Journal:

BMC Medical Genetics

Year:

2016

Language:

english

File:

PDF, 2.63 MB

english, 2016

39

Localized acalvaria with craniosynostosis

Faqeih, Eissa, Patay, Zoltan, Rahbeeni, Zuhair, Murtada, Jamila, Al Shail, Essam, Hall, Judith G.

Journal:

Clinical Dysmorphology

Year:

2008

Language:

english

File:

PDF, 251 KB

english, 2008

40

The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomes

Monies, Dorota, Abouelhoda, Mohamed, AlSayed, Moeenaldeen, Alhassnan, Zuhair, Alotaibi, Maha, Kayyali, Husam, Al-Owain, Mohammed, Shah, Ayaz, Rahbeeni, Zuhair, Al-Muhaizea, Mohammad A., Alzaidan, Hama

Journal:

Year:

2017

Language:

english

File:

PDF, 545 KB

english, 2017

41

A retrospective biochemical, molecular, and neurocognitive review of Saudi patients with argininosuccinic aciduria

AlTassan, Ruqaiah, Bubshait, Dalal, Imtiaz, Faiqa, Rahbeeni, Zuhair

Journal:

European Journal of Medical Genetics

Year:

2018

Language:

english

File:

PDF, 812 KB

english, 2018

42

Cystic fibrosis and the liver—a Saudi experience

Nazer, Hisham, Rahbeeni, Zuhair

Journal:

Annals of Tropical Paediatrics International Child Health

Year:

1994

Language:

english

File:

PDF, 2.02 MB

english, 1994

43

The phenotype, genotype, and outcome of infantile-onset Pompe disease in 18 Saudi patients

Al-Hassnan, Zuhair N., Khalifa, Ola A., Bubshait, Dalal K., Tulbah, Sahar, Alkorashy, Maarab, Alzaidan, Hamad, Alowain, Mohammed, Rahbeeni, Zuhair, Al-Sayed, Moeen

Journal:

Molecular Genetics and Metabolism Reports

Year:

2018

Language:

english

File:

PDF, 174 KB

english, 2018

44

Autozygome and high throughput confirmation of disease genes candidacy

Maddirevula, Sateesh, Alzahrani, Fatema, Al-Owain, Mohammed, Al Muhaizea, Mohammad A., Kayyali, Husam R., AlHashem, Amal, Rahbeeni, Zuhair, Al-Otaibi, Maha, Alzaidan, Hamad I., Balobaid, Ameera, El Kh

Journal:

Genetics in Medicine

Year:

2018

Language:

english

File:

PDF, 1.62 MB

english, 2018

45

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

46

Non-syndromic retinal dystrophy associated with homozygous mutations in the ALMS1 gene

Aldrees, Alanoud, Abdelkader, Ehab, Al-Habboubi, Hussain, Alrwebah, Huda, Rahbeeni, Zuhair, Schatz, Patrik

Journal:

Ophthalmic Genetics

Year:

2018

Language:

english

File:

PDF, 815 KB

english, 2018

47

Glutaric Aciduria Type 1: First Reported Cases in Three Saudi Patients

Coates, Robert, Rashed, Mohammed, Rahbeeni, Zuhair, Al-Garawi, Sami, Al-Odaib, Ali N., Sakati, Nadia, Gascon, Generoso, Worthen, Howard, Ozand, Pinar T.

Journal:

Annals of Saudi Medicine

Year:

1994

Language:

english

File:

PDF, 1.25 MB

english, 1994

48

Optic neuropathy in classical methylmalonic acidemia

AlOwain, Mohammed, Khalifa, Ola Ali, Al Sahlawi, Zahra, Hussein, Maged H, Sulaiman, Raashda A, Al-Sayed, Moeen, Rahbeeni, Zuhair, Al-Hassnan, Zuhair, Al-Zaidan, Hamad, Nezzar, Hachemi, Al Homoud, Ifte

Journal:

Ophthalmic Genetics

Year:

2019

Language:

english

File:

PDF, 1.52 MB

english, 2019

49

Genetic and phenotypic characterization of NKX6‐2 ‐related spastic ataxia and hypomyelination

Chelban, V., Alsagob, M., Kloth, K., Chirita‐Emandi, A., Vandrovcova, J., Maroofian, R., Davagnanam, I., Bakhtiari, S., AlSayed, M. D., Rahbeeni, Z., AlZaidan, H., Malintan, N. T., Johannsen, J., Efth

Journal:

European Journal of Neurology

Year:

2019

Language:

english

File:

PDF, 1.65 MB

english, 2019

50

Genetic and phenotypic characterization of NKX6‐2 ‐related spastic ataxia and hypomyelination

Chelban, V., Alsagob, M., Kloth, K., Chirita‐Emandi, A., Vandrovcova, J., Maroofian, R., Davagnanam, I., Bakhtiari, S., AlSayed, M. D., Rahbeeni, Z., AlZaidan, H., Malintan, N. T., Johannsen, J., Efth

Journal:

European Journal of Neurology

Year:

2019

File:

PDF, 1.65 MB

2019