… (c) Negative correlation between the number of other hits and head circumference z-scores
(age ≥12 months, n = 80, Pearson correlation R = –0.26, p = 0.009) in probands with 16p11.…

The four R-spondin secreted ligands (RSPO1–RSPO4) act via their cognate LGR4, LGR5
and LGR6 receptors to amplify WNT signalling 1 , 2 – 3 . Here we report an allelic series of …

… (c.2901_2902del), leading to frameshift and premature stop codon (P967PfsX12). In family
K182, affected patients carry a homozygous 1 bp insertion in CNTNAP1 exon 19 (c… exon 19 (c.…

… which goes to 0 as c goes to 1, 0 <p< 1. On the other hand, for each p ≥ 1 … [1, 2, 3, 5]) have
studied Bohr phenomena in C … (c) Notice that if s = 2 and c is any constant such that |an|2 = cr …

… 3q31.1 deletion on the left side, the 44-K array-CGH results (c). inline image Developmental
delay (DD); inline image seizures; inline image patient carrying the 15q13.3 microdeletion; …

… We hypothesized that the use of a potential upstream splice site at c.G1104(TG/GT) might …
hotspot that encodes the canal pore and the C-terminal region. Regions including exons 14 to …

… qPCR conditions included 40 cycles of 95 C for 15 s and 60 C for 1 min. For relative quantification
of the studied transcripts, the comparative CT method was used. Normal fetal lung was …

… Only one girl (III-C) did not carry the SHANK3 deletion. She had a full scale IQ in the normal
… Finally, we investigated one of the maternal uncles (subject II-C, Fig. 5), who also carried the …

… , Toutain A, Lacombe D, Arveiler B, de Vries BBA, Jonveaux P, David A, Le Caignec C. 2012.
… Two identified exonic variants in HNRNPU (exon 6 c.1215G > A, synonymous; exon 14 c.…

… Functional validation of recently identified disease genes was investigated through the
generation and characterisation of animal (C. elegans or Zebrafish) or cellular models and …