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Book
Horse genetics
Authors: ---
ISBN: 9781786392589 9781786392596 Year: 2020 Publisher: Wallingford, Oxfordshire, UK ; Boston : CABI,

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Abstract

"Completely updated and revised, the third edition of this essential textbook describes the basic genetics of the horse including coat colour, parentage, medical and population genetics, cytogenetics, performance, breeding systems and genetic conservation, as well as the many recent advances in genomics"--


Book
Les nouveaux paradigmes de la médecine personnalisée ou médecine de précision : enjeux juridiques, médicaux et éthiques
Authors: --- --- --- --- --- et al.
ISBN: 9782247139804 2247139809 Year: 2014 Publisher: Paris : Dalloz,


Book
Accompagner et soutenir le développement langagier de l'enfant
Authors: ---
ISBN: 9782807349827 280734982X Year: 2023 Publisher: Paris : De Boeck Supérieur,

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"Ce livre réunit les meilleurs spécialistes, cliniciens et enseignants, pour établir les recommandations de guidance et d'accompagnement des parents et des intervenants en orthophonie. Le partenariat entre orthophoniste et parents ou intervenants est la clé de voûte de la réussite d'une prise en soin orthophonique efficace. Ce livre détaille : Les composantes clés d'une interaction adulte-enfant de qualité ; Les attitudes et techniques qui favorisent le développement de la communication et du langage ; Les outils d'observation des interactions adulte-enfant ; Les défis actuels en orthophonie (négligence, interculturalité, bi/multilinguisme, etc.) ; Les particularités de l'accompagnement parental quand l'enfant connaît un trouble spécifique (trouble alimentaire pédiatrique, trouble du spectre de l'autisme, surdité) ; L'accompagnement des intervenants en milieux éducatifs. Riche de témoignages et de situations concrètes, ce livre vous aidera à accompagner les parents et les intervenants dans la bonne prise en soin des enfants."


Book
Naissance de la médecine prédictive
Author:
ISBN: 2738101909 9782738101907 Year: 1993 Publisher: Paris Jacob

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Abstract

La médecine prédictive désigne les capacités nouvelles de la médecine, et notamment de la génétique de prévoir, parfois très longtemps à l'avance, les affections qui frapperont le patient. Cette perspective a beaucoup préoccupé le législateur à l'occasion de l'examen des lois de bioéthique de 1994, et suscité un certain intérêt de la part des compagnies d'assurance. En fait, comme le souligne Jacques Ruffié dans son livre, le déterminisme génétique n'est pas simple au point de permettre la prédiction certaine d'une affection du patient. Hormis quelques maladies particulières, monogéniques et peu influencées par l'environnement (chorée de Huntington) la plupart des troubles sont déterminés par un ensemble mal connu de gènes et fortement influencés par l'environnement et les conditions de vie.


Book
Clinical genetics and genomics
Authors: ---
ISBN: 9780199557509 0199557500 9780192519825 9780192519832 9780191742453 Year: 2017 Publisher: Oxford : Oxford University Press,

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Abstract

A popular and easy-to-use guide, this book is a must-have tool for clinical consultations in genetics and genomic medicine. Ideal for quick reference during practice, it covers the process of diagnosis, investigation, management, and counselling for patients. With a strong evidence base and international guidelines, it puts reliable and trustworthy guidance at your fingertips. Designed for use as a first-line guide, the A to Z format ensures it's accessible, and the simple layout makes it easy to assimilate information. Highly illustrated, the book also contains up-to-date glossaries of terms used in genetics and dysmorphology providing quick reference for key concepts. The second edition is an eagerly anticipated update of the gold standard in the specialty. It covers new developments in the field, particularly the advent of genome-wide sequencing and major updates in cancer. Fifteen new topics have been added, including Sudden cardiac death, Neonatal screening, and Ciliopathies. The authors have used their experience to devise a practical clinical approach to many common genetic referrals, both outpatient and ward based. The most common Mendelian disorders, chromosomal disorders, congenital anomalies and syndromes are all covered, and where available diagnostic criteria are included. In addition there are chapters on familial cancer and pregnancy-related topics such as fetal anomalies, teratogens, prenatal and pre-implantation diagnosis and non-invasive prenatal testing. The book also provides information on the less common situations where management is particularly complex. Both practical and pertinent, Oxford Desk Reference: Clinical Genetics and Genomics is the companion you need by your side during clinical consultations.

Keywords

Genetics, Medical --- Genomics --- Chromosome Aberrations --- Genetic Diseases, Inborn --- Genetic Predisposition to Disease --- Medical genetics. --- Genomics. --- Génétique médicale --- Chromosomes humains --- Aberration chromosomique --- Maladies héréditaires --- Prédisposition (médecine) --- Anomalies --- Maladies chromosomiques. --- Aberrations chromosomiques. --- Genetics, Medical. --- Chromosome Aberrations. --- Genetic Diseases, Inborn. --- Genetic Predisposition to Disease. --- Genetic Diseases --- Genetic Disorders --- Hereditary Disease --- Inborn Genetic Diseases --- Single-Gene Defects --- Hereditary Diseases --- Defect, Single-Gene --- Defects, Single-Gene --- Disease, Genetic --- Disease, Hereditary --- Disease, Inborn Genetic --- Diseases, Genetic --- Diseases, Hereditary --- Diseases, Inborn Genetic --- Disorder, Genetic --- Disorders, Genetic --- Genetic Disease --- Genetic Disease, Inborn --- Genetic Disorder --- Inborn Genetic Disease --- Single Gene Defects --- Single-Gene Defect --- Comparative Genomics --- Comparative Genomic --- Genomic, Comparative --- Genomics, Comparative --- Human Genome Project --- Genome --- Predisposition, Genetic --- Susceptibility, Genetic --- Genetic Predisposition --- Genetic Susceptibility --- Genetic Predispositions --- Genetic Susceptibilities --- Predispositions, Genetic --- Susceptibilities, Genetic --- Disease Susceptibility --- Genetic Testing --- Anticipation, Genetic --- Genetic Association Studies --- Gene-Environment Interaction --- Abnormalities, Autosome --- Abnormalities, Chromosomal --- Abnormalities, Chromosome --- Chromosomal Aberrations --- Chromosome Abnormalities --- Cytogenetic Abnormalities --- Autosome Abnormalities --- Cytogenetic Aberrations --- Aberration, Chromosomal --- Aberration, Chromosome --- Aberration, Cytogenetic --- Aberrations, Chromosomal --- Aberrations, Chromosome --- Aberrations, Cytogenetic --- Abnormalities, Cytogenetic --- Abnormality, Autosome --- Abnormality, Chromosomal --- Abnormality, Chromosome --- Abnormality, Cytogenetic --- Autosome Abnormality --- Chromosomal Aberration --- Chromosomal Abnormalities --- Chromosomal Abnormality --- Chromosome Aberration --- Chromosome Abnormality --- Cytogenetic Aberration --- Cytogenetic Abnormality --- Chromosomes --- Cytogenetics --- Cytogenetic Analysis --- Medical Genetics --- Anthropology, Physical --- Chromosome Disorders --- Sex Chromosome Disorders --- Molecular Medicine --- genetics --- abnormalities --- Génétique médicale --- Maladies héréditaires --- Prédisposition (médecine)

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