Novel B4GALNT1 mutations in a complicated form of hereditary spastic paraplegia
Wakil, S.M., Monies, D.M., Ramzan, K., Hagos, S., Bastaki, L., Meyer, B.F., Bohlega, S.
Published in Clinical genetics (01.11.2014)
Published in Clinical genetics (01.11.2014)
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Inherited retinal dystrophies in a Kuwaiti tribe
Pandova, M G, Abduljalil, T, Elshafey, A E, Abdelmoaty, S M A, Albastawisy, H I, Bastaki, L A, Alsaleh, H, Kozak, I, AlMerjan, J I
Published in Ophthalmic genetics (01.08.2022)
Published in Ophthalmic genetics (01.08.2022)
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Journal Article
Distinguishing 3 classes of corpus callosal abnormalities in consanguineous families
Hanna, R M, Marsh, S E, Swistun, D, Al-Gazali, L, Zaki, M S, Abdel-Salam, G M, Al-Tawari, A, Bastaki, L, Kayserili, H, Rajab, A, Boglárka, B, Dietrich, R B, Dobyns, W B, Truwit, C L, Sattar, S, Chuang, N A, Sherr, E H, Gleeson, J G
Published in Neurology (25.01.2011)
Published in Neurology (25.01.2011)
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Journal Article
STAC3 p.Trp284Ser associated with congenital myopathy with distinctive dysmorphic features and malignant hyperthermia
Zaharieva, I, Sarkozy, A, Manzur, A, Munot, P, O’Grady, G, Rendu, J, Amthor, H, Servais, L, Malfatti, E, Dixon, J, Poke, G, Donkervoort, S, Foley, A.R, Neto, O.L.A, Davis, M.R, Urtizberea, J.A, Bastaki, L, Romero, N.B, Oates, E.C, Holmes, C, Williams, G, Sframeli, M, Yum, S, Medne, L, Roy, S.Q, Fauré, J, Feng, L, Morgan, J.E, Bönnemann, C.G, Phadke, R, Sewry, C.A, Treves, S, Muntoni, F
Published in Neuromuscular disorders : NMD (01.03.2017)
Published in Neuromuscular disorders : NMD (01.03.2017)
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Journal Article
A new locus for autosomal recessive complicated hereditary spastic paraplegia (SPG26) maps to chromosome 12p11.1–12q14
Wilkinson, P A, Simpson, M A, Bastaki, L, Patel, H, Reed, J A, Kalidas, K, Samilchuk, E, Khan, R, Warner, T T, Crosby, A H
Published in Journal of medical genetics (01.01.2005)
Published in Journal of medical genetics (01.01.2005)
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Journal Article
Sanjad-Sakati syndrome/Kenny-Caffey syndrome type 1: a study of 21 cases in Kuwait
Naguib, K K, Gouda, S A, Elshafey, A, Mohammed, F, Bastaki, L, Azab, A S, Alawadi, S A
Published in Eastern Mediterranean health journal (01.03.2009)
Published in Eastern Mediterranean health journal (01.03.2009)
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Journal Article
Profile of major congenital malformations in neonates in Al-Jahra region of Kuwait
Madi, S A, Al-Naggar, R L, Al-Awadi, S A, Bastaki, L A
Published in Eastern Mediterranean health journal (01.07.2005)
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Published in Eastern Mediterranean health journal (01.07.2005)
Journal Article
Floating-Harbor syndrome in a Kuwaiti patient: a case report and literature review
Bastaki, L, El-Nabi, M M H, Azab, A S, Gouda, S A, Al-Wadaani, A M, Naguib, K K
Published in Eastern Mediterranean health journal (01.07.2007)
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Published in Eastern Mediterranean health journal (01.07.2007)
Journal Article
Fragile X syndrome: a clinico-genetic study of mentally retarded patients in Kuwait
Bastaki, L A, Hegazy, F, Al-Heneidi, M M, Turki, N, Azab, A S, Naguib, K K
Published in Eastern Mediterranean health journal (01.01.2004)
Published in Eastern Mediterranean health journal (01.01.2004)
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Journal Article
Trisomy 18 in Kuwait
NAGUIB, K. K, AL-AWADI, S. A, MOUSSA, M. A. A, BASTAKI, I, GOUDA, S, REDHA, M. A, MUSTAFA, F, TAYEL, S. M, ABULHASSAN, S. A, MURTHY, D. S. K
Published in International journal of epidemiology (01.08.1999)
Published in International journal of epidemiology (01.08.1999)
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Journal Article
Unusual traits associated with Robinow syndrome
Sabry, M A, Ismail, E A, al-Naggar, R L, al-Torki, N A, Farah, S, al-Awadi, S A, Obenbergerova, D, Bastaki, L
Published in Journal of medical genetics (01.09.1997)
Published in Journal of medical genetics (01.09.1997)
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Journal Article
Profile of Chromosomal Abnormalities in the Al Jahra Region of Kuwait
Al-Naggar, R.L., Mady, S.A., Tayel, S.M., Farag, T.I., Al-Awadi, S.A., Al-Ghanim, M.M., Abulhasan, S.J., Sabry, M.A., Bastaki, L.
Published in Medical principles and practice (01.07.1999)
Published in Medical principles and practice (01.07.1999)
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Journal Article
OD08 - STAC3 p.Trp284Ser associated with congenital myopathy with distinctive dysmorphic features and malignant hyperthermia
Zaharieva, I., Sarkozy, A., Manzur, A., Munot, P., O’Grady, G., Rendu, J., Amthor, H., Servais, L., Malfatti, E., Dixon, J., Poke, G., Donkervoort, S., Foley, A.R., Neto, O.L.A., Davis, M.R., Urtizberea, J.A., Bastaki, L., Romero, N.B., Oates, E.C., Holmes, C., Williams, G., Sframeli, M., Yum, S., Medne, L., Roy, S.Q., Fauré, J., Feng, L., Morgan, J.E., Bönnemann, C.G., Phadke, R., Sewry, C.A., Treves, S., Muntoni, F.
Published in Neuromuscular disorders : NMD (01.03.2017)
Published in Neuromuscular disorders : NMD (01.03.2017)
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Journal Article
Down’s Syndrome in Kuwait: Recurrent Familial Trisomy 21 in Sibs
Al-Awadi, S.A., Naguib, K.K., Bastaki, L., Gouda, S., Mohammed, F.M., Abulhasan, S.J., Al-Ateeqi, W.A., Murthy, D.S.Krishna
Published in Medical principles and practice (01.04.1999)
Published in Medical principles and practice (01.04.1999)
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