Search Results - "Du Souich, C"

FLNA genomic rearrangements cause periventricular nodular heterotopia by CLAPHAM, K. R, YU, T. W, DU SOUICH, C, VAN KARNEBEEK, C, GUERRINI, R, WALSH, C. A, GANESH, V. S, BARRY, B, CHAN, Y, MEI, D, PARRINI, E, FUNALOT, B, DUPUIS, L, NEZARATI, M. M

“…To identify copy number variant (CNV) causes of periventricular nodular heterotopia (PNH) in patients for whom FLNA sequencing is negative. Screening of 35…”
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19p13.2 microduplication causes a Sotos syndrome-like phenotype and alters gene expression by Lehman, AM, du Souich, C, Chai, D, Eydoux, P, Huang, JL, Fok, AK, Avila, L, Swingland, J, Delaney, AD, McGillivray, B, Goldowitz, D, Argiropoulos, B, Kobor, MS, Boerkoel, CF

“…Lehman AM, du Souich C, Chai D, Eydoux P, Huang JL, Fok AK, Avila L, Swingland J, Delaney AD, McGillivray B, Goldowitz D, Argiropoulos B, Kobor MS, Boerkoel…”
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Phenotypic and molecular characterization of a novel DCX deletion and a review of the literature by Chou, A, Boerkoel, C, Du Souich, C, Rupps, R

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Minimal genotype-phenotype correlation for small deletions within distal 1p36 by Buck, A., du Souich, C., Boerkoel, Cornelius F.

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Phenotypic Variation in Heterozygous Familial Hypercholesterolemia: A Comparison of Chinese Patients With the Same or Similar Mutations in the LDL Receptor Gene in China or Canada by Pimstone, Simon N, Sun, Xi-Ming, du Souich, Christele, Frohlich, Jiri J, Hayden, Michael R, Soutar, Anne K

“…Familial hypercholesterolemia (FH) is caused by mutations in the LDL receptor (LDLR) gene and is usually associated with hypercholesterolemia, lipid deposition…”
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Attention deficity/hyperactivity in SLI children increases risk of speech/language disorders in first-degree relatives: a preliminary report by Kovac, I, Garabedian, B, Du Souich, C, Palmour, R M

“…Specific language impairment (SLI) or developmental dysphasia denotes the inability to acquire normal expression and/or comprehension of language in the…”
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Attention deficit/hyperactivity in SLI children increases risk of speech/language disorders in first-degree relatives: A preliminary report by Kovac, Ilija, Garabedian, Berdj, Du Souich, Christele, Palmour, Roberta M

“…Specific language impairment (SLI) or developmental dysphasia denotes the inability to acquire normal expression and/or comprehension of language in the…”
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Minimal genotype--phenotype correlation for small deletions within distal 1p36 by Buck, A, du Souich, C, Boerkoel, Cornelius F

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