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Enriquez, Annabelle
22  results:
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1

Myhre syndrome is caused by dominant-negative dysregulation..:

Alankarage, Dimuthu ; Enriquez, Annabelle ; Steiner, Robert D....
Differentiation.  128 (2022)  - p. 1-12 , 2022
Link: https://doi.org/10.1016/..
 
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2

A new era of genetic testing in congenital heart disease: A..:

Morrish, Ansley M. ; Smith, Janine ; Enriquez, Annabelle...
Trends in Cardiovascular Medicine.  32 (2022)  5 - p. 311-319 , 2022
Link: https://doi.org/10.1016/..
 
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3

Revealing hidden genetic diagnoses in the ocular anterior s..:

Ma, Alan ; Yousoof, Saira ; Grigg, John R....
Genetics in Medicine.  22 (2020)  10 - p. 1623-1632 , 2020
Link: https://doi.org/10.1038/..
 
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4

Heterozygous loss of WBP11 function causes multiple congeni..:

Martin, Ella M M A ; Enriquez, Annabelle ; Sparrow, Duncan B...
Human Molecular Genetics.  29 (2020)  22 - p. 3662-3678 , 2020
Link: https://doi.org/10.1093/..
 
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5

Identification of clinically actionable variants from genom..:

Alankarage, Dimuthu ; Ip, Eddie ; Szot, Justin O....
Genetics in Medicine.  21 (2019)  5 - p. 1111-1120 , 2019
Link: https://doi.org/10.1038/..
 
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6

Functional genomics and gene-environment interaction highli..:

Dunwoodie, Sally L ; Sparrow, Duncan B ; Giannoulatou, Eleni...
Human Molecular Genetics.  29 (2019)  4 - p. 566-579 , 2019
Link: https://doi.org/10.1093/..
 
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7

Hemophagocytic Lymphohistiocytosis in Loeys-Dietz Syndrome:

Biggin, Andrew ; Enriquez, Annabelle ; Wong, Melanie...
Journal of Clinical Immunology.  38 (2018)  3 - p. 234-236 , 2018
Link: https://doi.org/10.1007/..
 
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8

KBG syndrome: An Australian experience:

Murray, Natalia ; Burgess, Bronwyn ; Hay, Robin...
American Journal of Medical Genetics Part A.  173 (2017)  7 - p. 1866-1877 , 2017
Link: https://doi.org/10.1002/..
 
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9

Recurrence of split hand/foot malformation, cleft lip/palat..:

Enriquez, Annabelle ; Krivanek, Michael ; Flöttmann, Ricarda..
American Journal of Medical Genetics Part A.  170 (2016)  9 - p. 2372-2376 , 2016
Link: https://doi.org/10.1002/..
 
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10

Constitutive and Inducible Expression of Hepatic CYP2E1 in ..:

Leclercq, Isabelle A. ; Field, Jacqueline ; Enriquez, Annabelle..
Biochemical and Biophysical Research Communications.  268 (2000)  2 - p. 337-344 , 2000
Link: https://doi.org/10.1006/..
 
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11

Altered Expression of HepaticCYP2E1andCYP4Ain Obese, Diabet..:

Enriquez, Annabelle ; Leclercq, Isabelle ; Farrell, Geoffrey C..
Biochemical and Biophysical Research Communications.  255 (1999)  2 - p. 300-306 , 1999
Link: https://doi.org/10.1006/..
 
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12

Identifying the Genetic Causes of Congenital Anomalies:

Enriquez, Annabelle
http://hdl.handle.net/1959.4/101268.  , 2023
Link: http://hdl.handle.net/19..
 
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13

Myhre syndrome is caused by dominant-negative dysregulation..:

Alankarage, Dimuthu ; Enriquez, Annabelle ; Steiner, Robert D...
https://eprints.qut.edu.au/237300/1/Myhre_AAM.pdf.  , 2022
Link: https://eprints.qut.edu...
 
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14

Myhre syndrome is caused by dominant-negative dysregulation..:

Alankarage, Dimuthu ; Enriquez, Annabelle ; Steine, Robert D...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10442510/.  , 2022
Link: http://www.ncbi.nlm.nih...
 
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15

Myhre syndrome is caused by dominant-negative dysregulation..:

Alankarage, Dimuthu ; Enriquez, Annabelle ; Steiner, Robert D...
Alankarage , D , Enriquez , A , Steiner , R D , Raggio , C , Higgins , M , Milnes , D , Humphreys , D T , Duncan , E L , Sparrow , D B , Giampietro , P F , Chapman , G & Dunwoodie , S L 2022 , ' Myhre syndrome is caused by dominant-negative dysregulation of SMAD4 and other co-factors ' , Differentiation , vol. 128 , pp. 1-12 . https://doi.org/10.1016/j.diff.2022.09.002.  , 2022
Link: https://kclpure.kcl.ac.u..
 
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