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Author/Creator Hall, Judith G.

21. International multidisciplinary collaboration toward an annotated definition of arthrogryposis multiplex congenita. Issue 3 (7th July 2019)

Authors:
Dahan‐Oliel, Noémi; Cachecho, Sarah; Barnes, Douglas; Bedard, Tanya; Davison, Ann M.; Dieterich, Klaus; Donohoe, Maureen; Fąfara, Alicja; Hamdy, Reggie; Hjartarson, Helgi T.; S. Hoffman, Naimisha; Kimber, Eva; Komolkin, Igor; Lester, Ruth; Pontén, Eva; van Bosse, Harold J. P.; Hall, Judith G.
Other Names:
Dahan‐Oliel Noémi guestEditor.; Hall Judith guestEditor.
Journal:
American journal of medical genetics
Issue:
Volume 181:Issue 3(2019)
Page Start:
288
Record Type:
Journal Article
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22. Lethal respiratory course and additional features expand the phenotypic spectrum of PIEZO2‐related distal arthrogryposis type 5. Issue 2 (1st November 2022)

Authors:
Oliwa, Agata; Hendson, Glenda; Longman, Cheryl; Synnes, Anne; Seath, Kim; Barnicoat, Angela; Hall, Judith G.; Patel, Millan S.
Journal:
American journal of medical genetics
Issue:
Volume 191:Issue 2(2023)
Page Start:
546
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

24. Novel pathogenic variants and genes for myopathies identified by whole exome sequencing. Issue 4 (8th April 2015)

Authors:
Hunter, Jesse M.; Ahearn, Mary Ellen; Balak, Christopher D.; Liang, Winnie S.; Kurdoglu, Ahmet; Corneveaux, Jason J.; Russell, Megan; Huentelman, Matthew J.; Craig, David W.; Carpten, John; Coons, Stephen W.; DeMello, Daphne E.; Hall, Judith G.; Bernes, Saunder M.; Baumbach‐Reardon, Lisa
Journal:
Molecular genetics & genomic medicine
Issue:
Volume 3:Issue 4(2015:Jul.)
Page Start:
283
Record Type:
Journal Article
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27. Perspectives on the future of dysmorphology. Issue 3 (9th December 2022)

Authors:
Solomon, Benjamin D.; Adam, Margaret P.; Fong, Chin‐To; Girisha, Katta M.; Hall, Judith G.; Hurst, Anna C. E.; Krawitz, Peter M.; Moosa, Shahida; Phadke, Shubha R.; Tekendo‐Ngongang, Cedrik; Wenger, Tara L.
Journal:
American journal of medical genetics
Issue:
Volume 191:Issue 3(2023)
Page Start:
659
Record Type:
Journal Article
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30. Recurrent constellations of embryonic malformations re‐conceptualized as an overlapping group of disorders with shared pathogenesis. Issue 11 (14th September 2020)

Authors:
Adam, Aaron P.; Curry, Cynthia J.; Hall, Judith G.; Keppler‐Noreuil, Kim M.; Adam, Margaret P.; Dobyns, William B.
Journal:
American journal of medical genetics
Issue:
Volume 182:Issue 11(2020)
Page Start:
2646
Record Type:
Journal Article
View Content:
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