about
Arthrogryposis, ophthalmoplegia, and retinopathy: confirmation of a new type of arthrogryposis.The SNATIATION reflex.Clinical and molecular cytogenetic characterisation of a newly recognised microdeletion syndrome involving 2p15-16.1Complex inheritance pattern resembling autosomal recessive inheritance involving a microdeletion in thrombocytopenia-absent radius syndromeArthrogryposis as a Syndrome: Gene Ontology AnalysisThe distal arthrogryposes: delineation of new entities--review and nosologic discussionCongenital hypothalamic hamartoblastoma, hypopituitarism, imperforate anus and postaxial polydactyly--a new syndrome? Part I: clinical, causal, and pathogenetic considerationsChondrodysplasia punctata and maternal warfarin use during pregnancyMutations in PIEZO2 cause Gordon syndrome, Marden-Walker syndrome, and distal arthrogryposis type 5.Mouse homologues of human hereditary disease.Genomic imprinting: review and relevance to human diseases.Paediatrician Resource Survey: Preliminary results suggest some urgency.Reflections on an academic career.Health supervision for children with achondroplasia.Twinning.Arthrogryposis multiplex congenita (amyoplasia): an orthopaedic perspective.The smallest of the small.A meeting of minds: interdisciplinary research in the health sciences in Canada.International classification of osteochondrodysplasias. International Working Group on Constitutional Diseases of Bone.Client-centred assessment and the identification of meaningful treatment goals for individuals with a spinal cord injuryCytogenetic findings in over 2000 amniocenteses.Novel pathogenic variants and genes for myopathies identified by whole exome sequencingEditorial independence for CMAJ: signposts along the roadThe importance of the fetal origins of adult disease for geneticists.Pena-Shokeir phenotype (fetal akinesia deformation sequence) revisited.Epigenetics: What does it mean for paediatric practice?Congenital anomalies: an increasingly important cause of mortality and workload in a neonatal intensive care unit.Importance of muscle movement for normal craniofacial development.Prevalence of multiple congenital contractures including arthrogryposis multiplex congenita in Alberta, Canada, and a strategy for classification and coding.Failure to identify antenatal multiple congenital contractures and fetal akinesia--proposal of guidelines to improve diagnosis.Pallister-Hall syndrome has gone the way of modern medical genetics.Judith G. Hall: a genetic journey.Background to the 2nd International Symposium on Arthrogryposis.The Clinic Is My Laboratory: Life as a Clinical Geneticist.Gender and generational influences on the pediatric workforce and practice.Gonadal mosaicism in pseudoachondroplasia.Localized acalvaria with craniosynostosis.An approach to congenital contractures (arthrogryposis).Teratogens associated with congenital contractures in humans and in animals.Limb pterygium syndromes: a review and report of eleven patients.
P50
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P50
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Judith G. Hall
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Judith G. Hall
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Judith G. Hall
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Judith G. Hall
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Judith G. Hall
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Judith G. Hall
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Judith G. Hall
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جوديث جي. هال
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