Clinical Genetics

Volume 55, Number 1, January 1999

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HotSpots

To be or not to be an aggregate
pp. 9-10(2)
Author: Nasir, Jamal

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Cloned mice raise possibility of human cloning
pp. 11-12(2)
Author: Nasir, Jamal

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A second gene for myotonic dystrophy
pp. 12-12(1)
Author: Nasir, Jamal

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Original Articles

Diversity in expression of glucose-6-phosphate dehydrogenase deficiency in females
pp. 13-19(7)
Authors: Abdulrazzaq, Yousef M; Micallef, Rosette; Qureshi, M Mansoor; Dawodu, Adekunle; Ahmed, Ibrahim; Khidr, Ali; Bastaki, Salim Mohamed A; Al-Khayat, Abdulla I; Bayoumi, Riad A

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Thalassemia carrier screening and prenatal diagnosis among the British Columbia (Canada) population of Chinese descent
pp. 20-25(6)
Authors: Yong, Karina N; Wadsworth, Louis D; Langlois, Sylvie; Yong, Siu Li; Wilson, R Douglas

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Short Reports

Nevoid basal cell carcinoma syndrome. Clinical findings in 37 Italian affected individuals
pp. 34-40(7)
Authors: Lo Muzio, Lorenzo; Nocini, Pier Francesco; Savoia, Anna; Consolo, Ugo; Procaccini, Maurizio; Zelante, Leopoldo; Pannone, Giuseppe; Bucci, Paolo; Dolci, Marco; Bambini, Fabrizio; Solda, Paola; Favia, Gianfranco

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Lower extremity counterpart of the Poland syndrome
pp. 41-43(3)
Authors: Silengo, M; Lerone, M; Seri, M; Boffi, P

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Kenny-Caffey syndrome: an Arab variant?
pp. 44-49(6)
Authors: Sabry, MA; Farag, TI; Shaltout, AA; Zaki, M; Al-Mazidi, Z; Abulhassan, SJ; Al-Torki, N; Quishawi, A; Al Awadi, SA

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Missense mutations in phosphomannomutase 2 gene in two Japanese families with carbohydrate-deficient glycoprotein syndrome type 1
pp. 50-54(5)
Authors: Kondo, I; Mizugishi, K; Yoneda, Y; Hashimoto, T; Kuwajima, K; Yuasa, I; Shigemoto, K; Kuroda, Y

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X-inactivation and marker studies in three families with incontinentia pigmenti: implications for counselling and gene localisation
pp. 55-60(6)
Authors: Woffendin, Hayley; Jakins, Tracy; Jouet, Monique; Stewart, Helen; Landy, Sarah; Haan, Eric; Harris, Ann; Donnai, Dian; Read, Andrew; Kenwrick, Sue

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Letters to the Editor

TGFA: exon-intron structure and evaluation as a candidate gene for Alström syndrome
pp. 61-62(2)

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Analysis of infertile brothers with congenital bilateral absence of vas deferens for mutations in the CFTR gene
pp. 63-64(2)

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Mutation in the factor V gene associated with inferior vena cava thrombosis in newborns
pp. 65-66(2)

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Genetic investigation of patients with hypercholesterolemia type IIa
pp. 67-68(2)

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Impact of ApoE4 allele on total cholesterol levels of children in northern Spain
pp. 69-70(2)

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