New PDF release: Atlas of X-Linked Intellectual Disability Syndromes

By Roger E. Stevenson MD,Charles E. Schwartz,R. Curtis Rogers

The Atlas of X-Linked highbrow incapacity Syndromes is a accomplished and updated precis of the clinically certain problems attributable to genes at the X chromosome. scientific and laboratory info on a hundred and fifty syndromes are awarded in a concise and constant demeanour. each one syndrome is outlined and data is equipped on somatic good points, development and improvement, neurological indicators, cognitive functionality, imaging and different laboratory findings, and whilst attainable, the character and localization of the liable gene. Craniofacial and different somatic findings are generally illustrated. A differential matrix accompanies each one syndrome description to aid the reader in opting for different X-linked syndromes with overlapping beneficial properties. person syndrome entries are supplemented with nineteen appendices that determine syndromes with universal positive aspects and supply the site or mapping limits and serve as of the liable genes.

The authors have broad event within the medical and laboratory delineation of X-linked highbrow incapacity. they've got defined new syndromes, domestically mapped illness loci at the X chromosome, and pointed out the genes answerable for X-linked syndromes.

Show description

Read Online or Download Atlas of X-Linked Intellectual Disability Syndromes PDF

Best basic medical science books

Trypanosomes and Trypanosomiasis - download pdf or read online

This new quantity written by way of specialists within the box of trypanosome examine covers each element of trypanosome-vector-host biology. it's a needs to learn for easy researchers operating with trypanosomes and similar organisms, an infection and drug improvement in addition to parasitology in a broader feel. ​

New PDF release: Pathogenesis of Leishmaniasis: New Developments in Research

 This e-book discusses fresh advancements in numerous laboratories learning leishmaniasis. Sequencing of the human genome, in addition to of the leishmania genome, has resulted in major advances in our knowing of host-immune responses opposed to leishmania, and mechanisms of infection-induced pathology, that's chargeable for morbidity and mortality.

Download e-book for iPad: Basic Immunology E-Book: Functions and Disorders of the by Abul K. Abbas,Andrew H. H. Lichtman,Shiv Pillai

During this up to date version of uncomplicated Immunology, the authors proceed to carry a transparent, smooth advent to immunology, making this the most obvious selection for brand new busy scholars. Their adventure as academics, path administrators, and academics is helping them to distill the middle details required to appreciate this advanced box.

New PDF release: Conceitos de Genética (Portuguese Edition)

Conceitos de genética, nineª edição, aborda as descobertas mais importantes da área nos últimos a hundred and fifty anos, relacionando tais informações com os mecanismos genéticos que explicam os processos celulares, a diversidade biológica e a evolução. Além disso, enfatiza os vínculos entre genética da transmissão, genética molecular, genômica e proteômica.

Additional info for Atlas of X-Linked Intellectual Disability Syndromes

Sample text

Download PDF sample

Atlas of X-Linked Intellectual Disability Syndromes by Roger E. Stevenson MD,Charles E. Schwartz,R. Curtis Rogers


by Richard
4.1

Rated 4.55 of 5 – based on 12 votes