نتائج البحث

Estimating the odds ratios of Crohn disease for the main CARD15/NOD2 mutations using a conditional maximum likelihood method in pedigrees collected via affected family members.

• Authors : Pascoe, Leigh¹ ; Zouali, Habib¹; Sahbatou, Mourad¹

• Source: European Journal of Human Genetics. Aug2007, Vol. 15 Issue 8, p864-871. 8p. 1 Diagram, 5 Charts.

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Estimating the odds ratios of Crohn disease for the main CARD15/NOD2 mutations using a conditional maximum likelihood method in pedigrees collected via affected family members

• Authors : Jean-Pierre Hugot; Habib Zouali; Mourad Sahbatou

Subjects: Genetics; Likelihood Functions; education.field_of_study

• Source: European Journal of Human Genetics. 15:864-871

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Novel form of X-linked nonsyndromic hearing loss with cochlear malformation caused by a mutation in the type IV collagen gene COL4A6.

• Authors : Rost, Simone¹; Bach, Elisa¹; Neuner, Cordula¹

• Source: European Journal of Human Genetics. Feb2014, Vol. 22 Issue 2, p208-215. 8p.

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Sampling strategies for rare variant tests in case-control studies.

• Authors : Zöllner, Sebastian¹

• Source: European Journal of Human Genetics. Oct2012, Vol. 20 Issue 10, p1085-1091. 7p. 1 Chart, 5 Graphs.

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Anticipation in familial intracranial aneurysms in consecutive generations.

• Authors : Struycken, P.M.^1,2; Pals, G.³; Limburg, M.⁴

• Source: European Journal of Human Genetics. Oct2003, Vol. 11 Issue 10, p737. 7p.

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Phenotypic expansion of visceral myopathy associated with ACTG2 tandem base substitution.

• Authors : Klar, Joakim¹; Raykova, Doroteya¹; Gustafson, Elisabet²

• Source: European Journal of Human Genetics. Dec2015, Vol. 23 Issue 12, p1679-1683. 5p.

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Evidence for autosomal recessive inheritance in SPG3A caused by homozygosity for a novel ATL1 missense mutation.

• Authors : Khan, Tahir Naeem¹; Klar, Joakim²; Tariq, Muhammad¹

• Source: European Journal of Human Genetics. Oct2014, Vol. 22 Issue 10, p1180-1184. 5p.

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Variability in dentofacial phenotypes in four families with WNT10A mutations.

• Authors : Vink, Christian P¹; Ockeloen, Charlotte W²; ten Kate, Sietske³

• Source: European Journal of Human Genetics. Sep2014, Vol. 22 Issue 9, p1063-1070. 8p.

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Exome sequencing reveals a heterozygous DLX5 mutation in a Chinese family with autosomal-dominant split-hand/foot malformation.

• Authors : Wang, Xue¹; Xin, Qian¹; Li, Lin²

• Source: European Journal of Human Genetics. Sep2014, Vol. 22 Issue 9, p1105-1110. 6p.

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Whole-exome sequencing, without prior linkage, identifies a mutation in LAMB3 as a cause of dominant hypoplastic amelogenesis imperfecta.

• Authors : Poulter, James A¹; El-Sayed, Walid²; Shore, Roger C³

• Source: European Journal of Human Genetics. Jan2014, Vol. 22 Issue 1, p132-135. 4p.

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