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., Efthymiou, S., Ghayoor Karimiani, E., Mankad, K., Al‐Shahrani, S. A., Beiraghi Toosi, M., AlShammari, M., Groppa, S., Haridy, N. A., AlQuait, L., Qari, A., Huma, R., Salih, M. A., Almass, R., Almutairi, F. B., Hamad, M. H., Alorainy, I. A., Ramzan, K., Imtiaz, F., Puiu, M., Kruer, M. C., Bierhals, T., Wood, N. W., Colak, D., Houlden, H., Kaya, N.
Published in European journal of neurology (01.02.2020)
Published in European journal of neurology (01.02.2020)
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Mutations in known disease genes account for the majority of autosomal recessive retinal dystrophies
Patel, N., Alkuraya, H., Alzahrani, S.S., Nowailaty, S.R., Seidahmed, M.Z., Alhemidan, A., Ben‐Omran, T., Ghazi, N.G., Al‐Aqeel, A., Al‐Owain, M., Alzaidan, H.I., Faqeih, E., Kurdi, W., Rahbeeni, Z., Ibrahim, N., Abdulwahab, F., Hashem, M., Shaheen, R., Abouelhoda, M., Monies, D., Khan, A.O., Aldahmesh, M.A., Alkuraya, Fowzan S.
Published in Clinical genetics (01.12.2018)
Published in Clinical genetics (01.12.2018)
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Novel mutation in GLRB in a large family with hereditary hyperekplexia
Al-Owain, M, Colak, D, Al-Bakheet, A, Al-Hashmi, N, Shuaib, T, Al-Hemidan, A, Aldhalaan, H, Rahbeeni, Z, Al-Sayed, M, Al-Younes, B, Ozand, PT, Kaya, N
Published in Clinical genetics (01.05.2012)
Published in Clinical genetics (01.05.2012)
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Journal Article
Clinical and molecular findings of 13 families from Saudi Arabia and a family from Sudan with homocystinuria
Zaidi, SHE, Faiyaz-Ul-Haque, M, Shuaib, T, Balobaid, A, Rahbeeni, Z, Abalkhail, H, Al-Abdullatif, A, Al-Hassnan, Z, Peltekova, I, Al-Owain, M
Published in Clinical genetics (01.06.2012)
Published in Clinical genetics (01.06.2012)
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Journal Article
Clinical, biochemical and molecular characterization of peroxisomal diseases in Arabs
Shaheen, R, Al-Dirbashi, OY, Al-Hassnan, ZN, Al-Owain, M, Makhsheed, N, Basheeri, F, Seidahmed, MZ, Salih, MAM, Faqih, E, Zaidan, H, Al-Sayed, M, Rahbeeni, Z, Al-Sheddi, T, Hashem, M, Kurdi, W, Shimozawa, N, Alkuraya, FS
Published in Clinical genetics (01.01.2011)
Published in Clinical genetics (01.01.2011)
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Journal Article
Terminal 4q deletion and 8q duplication in a patient with CHARGE-like features
Khalifa, Ola A, Walter, Claudia U, Rahbeeni, Z.A, Verloes, A
Published in European journal of medical genetics (01.03.2011)
Published in European journal of medical genetics (01.03.2011)
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Journal Article
Smith-Lemli-Opitz syndrome among Arabs
Al-Owain, M, Imtiaz, F, Shuaib, T, Edrees, A, Al-Amoudi, M, Sakati, N, Al-Hassnan, Z, Bamashmous, H, Rahbeeni, Z, Al-Ameer, S, Faqeih, E, Meyer, B, Al-Hashem, A, Garout, W, Al-Odaib, A, Rashed, M, Al-Aama, JY
Published in Clinical genetics (01.08.2012)
Published in Clinical genetics (01.08.2012)
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Journal Article
Application of electrospray tandem mass spectrometry to neonatal screening
Rashed, Mohamed S., Rahbeeni, Zuhair, Ozand, Pinar T.
Published in Seminars in perinatology (01.04.1999)
Published in Seminars in perinatology (01.04.1999)
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Journal Article
Identification of two novel mutations in OCTN2 from two Saudi patients with systemic carnitine deficiency
Rahbeeni, Z., Vaz, F. M., Al‐Hussein, K., Bucknall, M. P., Ruiter, J., Wanders, R. J., Rashed, M. S.
Published in Journal of inherited metabolic disease (01.09.2002)
Published in Journal of inherited metabolic disease (01.09.2002)
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Journal Article
Infectious complications of propionic acidemia in Saudia Arabia
Essa, M. Al, Rahbeeni, Z., Jumaah, S., Joshi, S., Jishi, E. Al, Rashed, M. S., Amoudi, M. Al, Ozand, P. T.
Published in Clinical genetics (01.07.1998)
Published in Clinical genetics (01.07.1998)
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Journal Article
Unusual presentations of propionic acidemia
Ozand, P.T., Rashed, M., Gascon, G.G., Youssef, N.G., Harfi, H., Rahbeeni, Z., Al Garawi, S., Al Aqeel, A.
Published in Brain & development (Tokyo. 1979) (01.11.1994)
Published in Brain & development (Tokyo. 1979) (01.11.1994)
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Journal Article
Ethylmalonic aciduria: an organic acidemia with CNS involvement and vasculopathy
Ozand, P.T., Rashed, M., Millington, D.S., Sakati, N., Hazzaa, S., Rahbeeni, Z., Al Odaib, A., Youssef, N., Mazrou, A., Gascon, G.G., Brismar, J.
Published in Brain & development (Tokyo. 1979) (01.11.1994)
Published in Brain & development (Tokyo. 1979) (01.11.1994)
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Journal Article
Zellweger syndrome in Saudi Arabia and its distinct features
AL-ESSA, M, DHAUNSI, G. S, RASHED, M, OZAND, P. T, RAHBEENI, Z
Published in Clinical pediatrics (01.02.1999)
Published in Clinical pediatrics (01.02.1999)
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Journal Article
Zeliweger Syndrome in Saudi Arabia and Its Distinct Features
Al-Essa, M., Dhaunsi, Gursev S., Rashed, M., Ozand, Pinar T., Rahbeeni, Z.
Published in Clinical pediatrics (01.03.1999)
Published in Clinical pediatrics (01.03.1999)
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Journal Article
4-Hydroxybutyric aciduria
Rahbeeni, Z., Ozand, P.T., Rashed, M., Gascon, G.G., Al Nasser, M., Al Odaib, A., Amoudi, M., Nester, M., Al Garawi, S., Brismar, J.
Published in Brain & development (Tokyo. 1979) (01.11.1994)
Published in Brain & development (Tokyo. 1979) (01.11.1994)
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Journal Article
Impaired DNA synthesis in dermal fibroblasts from Zellweger syndrome patients
Dhaunsi, G. S., Rahbeeni, Z., Al‐Essa, M., Ozand, P. T.
Published in Journal of inherited metabolic disease (01.04.1998)
Published in Journal of inherited metabolic disease (01.04.1998)
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Journal Article
Comparative frequency and severity of hypoglycemia in selected organic acidemias, branched chain amino acidemia, and disorders of fructose metabolism
Worthen, H.G., Al Ashwal, A., Ozand, P.T., Garawi, S., Rahbeeni, Z., Al Odaib, A., Subramanyam, S.B., Rashed, M.
Published in Brain & development (Tokyo. 1979) (01.11.1994)
Published in Brain & development (Tokyo. 1979) (01.11.1994)
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Journal Article
Neurophysiologic correlates of organic acidemias: a survey of 107 patients
Stigsby, B., Yarworth, S.M., Rahbeeni, Z., Dabbagh, O., de Gier Munk, C., Abdo, N., Brismar, J., Gascon, G.G., Ozand, P.T.
Published in Brain & development (Tokyo. 1979) (01.11.1994)
Published in Brain & development (Tokyo. 1979) (01.11.1994)
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