Zobrazeno 1 - 10 of 609 pro vyhledávání: '"Judith G. Hall"'
1
Elektronická kniha
Handbook of Physical Measurements
Autor: Karen W. Gripp, Anne M. Slavotinek, Judith G. Hall, Judith E. Allanson
Thoroughly updated and revised, this new edition of the classic clinical text provides a comprehensive review of physical measurements used in the clinical evaluation of neonates, children, and adults presenting with dysmorphic features, structural a
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2
Perspectives on the future of dysmorphology
Autor: Benjamin D. Solomon, Margaret P. Adam, Chin‐To Fong, Katta M. Girisha, Judith G. Hall, Anna C. E. Hurst, Peter M. Krawitz, Shahida Moosa, Shubha R. Phadke, Cedrik Tekendo‐Ngongang, Tara L. Wenger
Publikováno v: American Journal of Medical Genetics Part A. 191:659-671
The field of clinical genetics and genomics continues to evolve. In the past few decades, milestones like the initial sequencing of the human genome, dramatic changes in sequencing technologies, and the introduction of artificial intelligence, have u
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1f1667fa9a02ecead264f9cfb35a48ed
https://doi.org/10.1002/ajmg.a.63060
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4
Elektronická kniha
Human Malformations and Related Anomalies
Autor: Roger E. Stevenson, Judith G. Hall
This widely acclaimed reference work gives a comprehensive survey of all significant human malformations and related anomalies from the perspective of the clinician. The anomalies are organized by anatomical system and presented in a consistent manne
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5
Examining the Vanishing Twin Hypothesis of Neural Tube Defects
Autor: Wendy P. Robinson, Dorret I. Boomsma, Nicholas G. Martin, Jenny van Dongen, Allan F. McRae, Veronika V. Odintsova, Scott D. Gordon, Judith G. Hall
Publikováno v: van Dongen, J, Gordon, S D, Odintsova, V V, McRae, A F, Robinson, W P, Hall, J G, Boomsma, D I & Martin, N G 2021, ' Examining the Vanishing Twin Hypothesis of Neural Tube Defects : Application of an Epigenetic Predictor for Monozygotic Twinning ', Twin Research and Human Genetics, vol. 24, no. 3, pp. 155-159 . https://doi.org/10.1017/thg.2021.25
Twin Research and Human Genetics, 24(3), 155-159. Australian Academic Press
Strong associations between neural tube defects (NTDs) and monozygotic (MZ) twinning have long been noted, and it has been suggested that NTD cases who do not present as MZ twins may be the survivors of MZ twinning events. We have recently shown that
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b1349da8b36b0d160b443fae8d762db3
https://research.vu.nl/en/publications/b7129bdd-e6a2-433a-9759-f4fb304fddbd
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6
The contributions of careful clinical observations: A legacy
Autor: Judith G. Hall
Publikováno v: American Journal of Medical Genetics Part A. 185:3202-3207
Clinical Medicine is an Art which is learned, together with hard work, as an apprentice-observing how a master works, and improving with experience and exposure. Clinicians are performing multiple things at the same time-trying to make a diagnosis, p
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::20fd1ffb16f48e74cf9d8eff490e09d7
https://doi.org/10.1002/ajmg.a.62342
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7
The mystery of monozygotic twinning II: What can monozygotic twinning tell us about Amyoplasia from a review of the various mechanisms and types of monozygotic twinning?
Autor: Judith G. Hall
Publikováno v: American Journal of Medical Genetics Part A. 185:1822-1835
Monozygotic (MZ) twins ("identical twins") are essentially unique to human beings. Why and how they arise is not known. This article reviews the possible different types of MZ twinning recognized in the previous article on twins and arthrogryposis. T
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fcfac7ddb181448fd4cc189f121fc9ec
https://doi.org/10.1002/ajmg.a.62177
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8
The mystery of monozygotic twinning I: What can Amyoplasia tell us about monozygotic twinning and the possible role of twin–twin transfusion?
Autor: Judith G. Hall
Publikováno v: American Journal of Medical Genetics Part A. 185:1816-1821
Amyoplasia is a very specific, nongenetic clinically recognizable form of arthrogryposis, representing about one-third of individuals with arthrogryposis surviving the newborn period. There is a markedly increased number of individuals with Amyoplasi
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5be4569013db0f3721f713d67588b962
https://doi.org/10.1002/ajmg.a.62172
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10
Recurrent constellations of embryonic malformations re‐conceptualized as an overlapping group of disorders with shared pathogenesis
Autor: Kim M. Keppler-Noreuil, Margaret P. Adam, William B. Dobyns, Aaron P Adam, Cynthia J. Curry, Judith G. Hall
Publikováno v: American Journal of Medical Genetics Part A. 182:2646-2661
Several recurrent malformation associations affecting the development of the embryo have been described in which a genetic etiology has not been found, including LBWC, MURCS, OAVS, OEIS, POC, VACTERL, referred to here as "recurrent constellations of
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::633f6d464cce0a21e28908f0a6af5b44
https://doi.org/10.1002/ajmg.a.61847
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