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1.

Personal journeys to and in human genetics and dysmorphology.

Schwartz, Charles E; Aylsworth, Arthur S; Allanson, Judith; Battaglia, Agatino; Carey, John C; Curry, Cynthia J; Davies, Kay E; Eichler, Evan E; Graham, John M; Hall, Bryan; Hall, Judith G; Holmes, Lewis B; Hoyme, H Eugene; Hunter, Alasdair; Innis, Jeffrey; Johnson, John; Keppler-Noreuil, Kim M; Leroy, Jules G; Moore, Cynthia; Nelson, David L; Neri, Giovanni; Opitz, John M; Picketts, David; Raymond, F Lucy; Shalev, Stavit Allon; Stevenson, Roger E; Stumpel, Connie T R M; Sutherland, Grant; Viskochil, David H; Weaver, David D; Zackai, Elaine H.

Am J Med Genet A ; 194(6): e63514, 2024 Jun.

Artículo en Inglés | MEDLINE | ID: mdl-38329159

2.

Common data elements for arthrogryposis multiplex congenita: An international framework.

Nematollahi, Shahrzad; Dieterich, Klaus; Filges, Isabel; De Vries, Johanna I P; Van Bosse, Harold; Benito, Daniel Natera-De; Hall, Judith G; Sawatzky, Bonita; Bedard, Tanya; Sanchez, Victoria Castillo; Navalon-Martinez, Carolina; Pan, Tony; Hilton, Coleman; Dahan-Oliel, Noémi.

Dev Med Child Neurol ; 2024 Mar 16.

Artículo en Inglés | MEDLINE | ID: mdl-38491830

3.

Lethal respiratory course and additional features expand the phenotypic spectrum of PIEZO2-related distal arthrogryposis type 5.

Oliwa, Agata; Hendson, Glenda; Longman, Cheryl; Synnes, Anne; Seath, Kim; Barnicoat, Angela; Hall, Judith G; Patel, Millan S.

Am J Med Genet A ; 191(2): 546-553, 2023 02.

Artículo en Inglés | MEDLINE | ID: mdl-36317804

4.

Perspectives on the future of dysmorphology.

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.

Am J Med Genet A ; 191(3): 659-671, 2023 03.

Artículo en Inglés | MEDLINE | ID: mdl-36484420

5.

Northwest Indigenous Art and the Inspiring Spirits.

Hall, Judith G; Taualii, Maile M; Speck, Wedlidi.

Am J Med Genet C Semin Med Genet ; 187(2): 254-260, 2021 06.

Artículo en Inglés | MEDLINE | ID: mdl-33982414

6.

The contributions of careful clinical observations: A legacy.

Hall, Judith G.

Am J Med Genet A ; 185(11): 3202-3207, 2021 11.

Artículo en Inglés | MEDLINE | ID: mdl-34015177

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?

Hall, Judith G.

Am J Med Genet A ; 185(6): 1822-1835, 2021 06.

Artículo en Inglés | MEDLINE | ID: mdl-33765349

8.

Deformations associated with arthrogryposis.

Hall, Judith G.

Am J Med Genet A ; 185(9): 2676-2682, 2021 09.

Artículo en Inglés | MEDLINE | ID: mdl-33683011

9.

The mystery of monozygotic twinning I: What can Amyoplasia tell us about monozygotic twinning and the possible role of twin-twin transfusion?

Hall, Judith G.

Am J Med Genet A ; 185(6): 1816-1821, 2021 06.

Artículo en Inglés | MEDLINE | ID: mdl-33760374

10.

Continuing contributions of older academics.

Hall, Judith G.

Am J Med Genet A ; 185(2): 647-657, 2021 02.

Artículo en Inglés | MEDLINE | ID: mdl-33155414

11.

The spectrum of brain malformations and disruptions in twins.

Park, Kaylee B; Chapman, Teresa; Aldinger, Kimberly A; Mirzaa, Ghayda M; Zeiger, Jordan; Beck, Anita; Glass, Ian A; Hevner, Robert F; Jansen, Anna C; Marshall, Desiree A; Oegema, Renske; Parrini, Elena; Saneto, Russell P; Curry, Cynthia J; Hall, Judith G; Guerrini, Renzo; Leventer, Richard J; Dobyns, William B.

Am J Med Genet A ; 185(9): 2690-2718, 2021 09.

Artículo en Inglés | MEDLINE | ID: mdl-33205886

12.

Examining the Vanishing Twin Hypothesis of Neural Tube Defects: Application of an Epigenetic Predictor for Monozygotic Twinning.

van Dongen, Jenny; Gordon, Scott D; Odintsova, Veronika V; McRae, Allan F; Robinson, Wendy P; Hall, Judith G; Boomsma, Dorret I; Martin, Nicholas G.

Twin Res Hum Genet ; 24(3): 155-159, 2021 06.

Artículo en Inglés | MEDLINE | ID: mdl-34308812

13.

The Clinic Is My Laboratory: Life as a Clinical Geneticist.

Hall, Judith G.

Annu Rev Genomics Hum Genet ; 18: 1-29, 2017 08 31.

Artículo en Inglés | MEDLINE | ID: mdl-28301737

14.

Recurrent constellations of embryonic malformations re-conceptualized as an overlapping group of disorders with shared pathogenesis.

Adam, Aaron P; Curry, Cynthia J; Hall, Judith G; Keppler-Noreuil, Kim M; Adam, Margaret P; Dobyns, William B.

Am J Med Genet A ; 182(11): 2646-2661, 2020 11.

Artículo en Inglés | MEDLINE | ID: mdl-32924308

15.

Fetal cervical hyperextension in arthrogryposis.

Hall, Judith G.

Am J Med Genet C Semin Med Genet ; 181(3): 354-362, 2019 09.

Artículo en Inglés | MEDLINE | ID: mdl-31350810

16.

Gene ontology analysis of arthrogryposis (multiple congenital contractures).

Kiefer, Jeff; Hall, Judith G.

Am J Med Genet C Semin Med Genet ; 181(3): 310-326, 2019 09.

Artículo en Inglés | MEDLINE | ID: mdl-31369690

17.

Fetal arthrogryposis: Challenges and perspectives for prenatal detection and management.

Filges, Isabel; Tercanli, Sevgi; Hall, Judith G.

Am J Med Genet C Semin Med Genet ; 181(3): 327-336, 2019 09.

Artículo en Inglés | MEDLINE | ID: mdl-31318155

18.

Classification of arthrogryposis.

Hall, Judith G; Kimber, Eva; Dieterich, Klaus.

Am J Med Genet C Semin Med Genet ; 181(3): 300-303, 2019 09.

Artículo en Inglés | MEDLINE | ID: mdl-31271512

19.

Central nervous system involvement in arthrogryposis multiplex congenita: Overview of causes, diagnosis, and care.

Dieterich, Klaus; Kimber, Eva; Hall, Judith G.

Am J Med Genet C Semin Med Genet ; 181(3): 345-353, 2019 09.

Artículo en Inglés | MEDLINE | ID: mdl-31410997

20.

Collaborating to advance interdisciplinary care for individuals with arthrogryposis.

Dahan-Oliel, Noémi; Hall, Judith G.

Am J Med Genet C Semin Med Genet ; 181(3): 273-276, 2019 09.

Artículo en Inglés | MEDLINE | ID: mdl-31471949

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Personal journeys to and in human genetics and dysmorphology.

Common data elements for arthrogryposis multiplex congenita: An international framework.

Lethal respiratory course and additional features expand the phenotypic spectrum of PIEZO2-related distal arthrogryposis type 5.

Perspectives on the future of dysmorphology.

Northwest Indigenous Art and the Inspiring Spirits.

The contributions of careful clinical observations: A legacy.

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?

Deformations associated with arthrogryposis.

The mystery of monozygotic twinning I: What can Amyoplasia tell us about monozygotic twinning and the possible role of twin-twin transfusion?

Continuing contributions of older academics.

The spectrum of brain malformations and disruptions in twins.

Examining the Vanishing Twin Hypothesis of Neural Tube Defects: Application of an Epigenetic Predictor for Monozygotic Twinning.

The Clinic Is My Laboratory: Life as a Clinical Geneticist.

Recurrent constellations of embryonic malformations re-conceptualized as an overlapping group of disorders with shared pathogenesis.

Fetal cervical hyperextension in arthrogryposis.

Gene ontology analysis of arthrogryposis (multiple congenital contractures).

Fetal arthrogryposis: Challenges and perspectives for prenatal detection and management.

Classification of arthrogryposis.

Central nervous system involvement in arthrogryposis multiplex congenita: Overview of causes, diagnosis, and care.

Collaborating to advance interdisciplinary care for individuals with arthrogryposis.