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The Atlas of X-Linked Intellectual Disability Syndromes is a
comprehensive and up-to-date summary of the clinically distinctive
disorders caused by genes on the X chromosome. Clinical and
laboratory data on 150 syndromes are presented in a concise and
consistent manner. Each syndrome is defined and information is
provided on somatic features, growth and development, neurological
signs, cognitive performance, imaging and other laboratory
findings, and when possible, the nature and localization of the
responsible gene. Craniofacial and other somatic findings are
extensively illustrated. A differential matrix accompanies each
syndrome description to assist the reader in identifying other
X-linked syndromes with overlapping features. Individual syndrome
entries are supplemented with nineteen appendices that identify
syndromes with common features and provide the location or mapping
limits and function of the responsible genes. The authors have
extensive experience in the clinical and laboratory delineation of
X-linked intellectual disability. They have described new
syndromes, regionally mapped disease loci on the X chromosome, and
identified the genes responsible for X-linked syndromes.
Collection of three British romantic comedies. In 'About Time'
(2013), following yet another uneventful New Year's Eve Party,
21-year-old Tim (Domhnall Gleeson) learns a life-changing secret
from his father (Bill Nighy). It seems that the men in Tim's family
possess the unique ability to travel in time by simply entering a
dark space, clenching their fists, and imagining the place they
want to be. Armed with this knowledge, Tim decides to leave rural
Cornwall behind and move to London to become a lawyer, and in the
process, find love. All seems to be going well when he meets and
falls for the dazzling Mary (Rachel McAdams), using his newfound
abilities to help win the day. But when a mishap in the time
travelling manoeuvre threatens his future happiness, Tim soon comes
to realise that, above all else, it's how you live your life in the
present that really matters. In 'Love Actually' (2003), eight
stories involving the love lives of more than a dozen characters
are brought together over one Christmas and climax on Christmas
Eve; from the recent widower Daniel (Liam Neeson), the failing
marriage of Karen (Emma Thompson) and Harry (Alan Rickman), the
aging rocker (Nighy) who just wants to get paid (and laid if
possible), through to the Prime Minister (Hugh Grant) falling for a
member of Number 10's staff (Martine McCutcheon). In 'Notting Hill'
(1999), Anna Scott (Julia Roberts) is the world's most famous movie
star, whilst divorcee William Thacker (Grant) owns an ailing travel
bookstore in his local neighbourhood of Notting Hill. One day Anna
buys a book from William's shop and later collides messily with him
on a street corner. She accompanies him home to clean herself up,
and from there springs an unlikely romance. However, the path of
true love is littered with obstacles, not least the media, the
adoring fans and the differences in their lifestyles.
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