American Journal of Medical Genetics Part C: Seminars in Medical Genetics
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Ethical considerations of early (first vs. second trimester) risk assessment disclosure for trisomy 21 and patient choice in screening versus diagnostic testingGenetic counseling and ethical issues for autismTenascin-X, collagen, elastin, and the Ehlers-Danlos syndromeIntroduction: Williams syndromeLiver and kidney disease in ciliopathiesDisorders of carnitine transport and the carnitine cycle5p deletions: Current knowledge and future directions.Facial dysostoses: Etiology, pathogenesis and managementSWI/SNF chromatin remodeling complexes and cancerAutophagy and mitochondria in Pompe disease: nothing is so new as what has long been forgottenModeling anterior development in mice: diet as modulator of risk for neural tube defectsType I glutaric aciduria, part 1: natural history of 77 patientsType I glutaric aciduria, part 2: a model of acute striatal necrosis22q13.3 deletion syndrome: a recognizable malformation syndrome associated with marked speech and language delayGenetic insights into familial tumors of the nervous systemMethylmalonic and propionic aciduriaAuditory function and hearing loss in children and adults with Williams syndrome: cochlear impairment in individuals with otherwise normal hearing.Characterizing genetic variants for clinical actionRisk of tumorigenesis in overgrowth syndromes: A comprehensive reviewBreast cancer survivors' attitudes about communication of breast cancer risk to their children.Gastroschisis: international epidemiology and public health perspectives.Epidemic of plurality and contributions of assisted reproductive technology therein.Uncertainty and perceived personal control among parents of children with rare chromosome conditions: the role of genetic counseling.Neuroimaging studies in the evaluation of developmental delay/mental retardation.Metabolic disorders and mental retardation.The genetics of lissencephaly.Polymicrogyria: a common and heterogeneous malformation of cortical development.Pontocerebellar hypoplasia.Methodology of a multistate study of congenital hearing loss: preliminary data from Utah newborn screening.Advances in autism neuroimaging research for the clinician and geneticist.Communication of positive newborn screening results for sickle cell disease and sickle cell trait: variation across states.Inborn errors of cobalamin absorption and metabolism.Jacobsen syndrome: Advances in our knowledge of phenotype and genotype.Genomic imprinting and environment in hereditary paraganglioma.Clinical and molecular features of Joubert syndrome and related disorders.Neuroimaging advances in holoprosencephaly: Refining the spectrum of the midline malformation.Genetic counseling and "molecular" prenatal diagnosis of holoprosencephaly (HPE).Holoprosencephaly and ectrodactyly: Report of three new patients and review of the literature.Holoprosencephaly and craniosynostosis: A report of two siblings and review of the literatureCurrent recommendations for the molecular evaluation of newly diagnosed holoprosencephaly patients
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P1433
American Journal of Medical Genetics Part C: Seminars in Medical Genetics
description
journal
@en
revista científica
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rivista scientifica
@it
vědecký časopis
@cs
wetenschappelijk tijdschrift van Wiley-Blackwell
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wissenschaftliche Fachzeitschrift
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مجلة
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वैज्ञानिक पत्रिका
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name
American Journal of Medical Genetics Part C: Seminars in Medical Genetics
@ast
American Journal of Medical Genetics Part C: Seminars in Medical Genetics
@da
American Journal of Medical Genetics Part C: Seminars in Medical Genetics
@en
American Journal of Medical Genetics Part C: Seminars in Medical Genetics
@es
American Journal of Medical Genetics Part C: Seminars in Medical Genetics
@fi
American Journal of Medical Genetics Part C: Seminars in Medical Genetics
@fr
American Journal of Medical Genetics Part C: Seminars in Medical Genetics
@it
American Journal of Medical Genetics Part C: Seminars in Medical Genetics
@nb
American Journal of Medical Genetics Part C: Seminars in Medical Genetics
@nl
American Journal of Medical Genetics Part C: Seminars in Medical Genetics
@nn
type
label
American Journal of Medical Genetics Part C: Seminars in Medical Genetics
@ast
American Journal of Medical Genetics Part C: Seminars in Medical Genetics
@da
American Journal of Medical Genetics Part C: Seminars in Medical Genetics
@en
American Journal of Medical Genetics Part C: Seminars in Medical Genetics
@es
American Journal of Medical Genetics Part C: Seminars in Medical Genetics
@fi
American Journal of Medical Genetics Part C: Seminars in Medical Genetics
@fr
American Journal of Medical Genetics Part C: Seminars in Medical Genetics
@it
American Journal of Medical Genetics Part C: Seminars in Medical Genetics
@nb
American Journal of Medical Genetics Part C: Seminars in Medical Genetics
@nl
American Journal of Medical Genetics Part C: Seminars in Medical Genetics
@nn
altLabel
American Journal of Medical Genetics. Part C: Seminars in Medical Genetics
@en
prefLabel
American Journal of Medical Genetics Part C: Seminars in Medical Genetics
@ast
American Journal of Medical Genetics Part C: Seminars in Medical Genetics
@da
American Journal of Medical Genetics Part C: Seminars in Medical Genetics
@en
American Journal of Medical Genetics Part C: Seminars in Medical Genetics
@es
American Journal of Medical Genetics Part C: Seminars in Medical Genetics
@fi
American Journal of Medical Genetics Part C: Seminars in Medical Genetics
@fr
American Journal of Medical Genetics Part C: Seminars in Medical Genetics
@it
American Journal of Medical Genetics Part C: Seminars in Medical Genetics
@nb
American Journal of Medical Genetics Part C: Seminars in Medical Genetics
@nl
American Journal of Medical Genetics Part C: Seminars in Medical Genetics
@nn
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P1476
American Journal of Medical Genetics Part C: Seminars in Medical Genetics
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