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Niehaus, Annie D.
24  Ergebnisse:
Personensuche X
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1

P857: Medical genetics and genomics residents' perceptions ..:

Gomez-Stafford, Justin ; Martschenko, Daphne ; Stevenson, David...
Genetics in Medicine Open.  2 (2024)  - p. 101771 , 2024
Link: https://doi.org/10.1016/..
 
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2

Newborn Screening for X-Linked Adrenoleukodystrophy (X-ALD)..:

Mares Beltran, Carlos F. ; Tise, Christina G. ; Barrick, Rebekah...
Genes.  15 (2024)  7 - p. 838 , 2024
Link: https://doi.org/10.3390/..
 
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3

Clinicopathologic Features of IDEDNIK (MEDNIK) Syndrome in ..:

Lu, Jiajie G. ; Namjoshi, Shweta S. ; Niehaus, Annie D....
Pediatric and Developmental Pathology.  26 (2023)  4 - p. 406-410 , 2023
Link: https://doi.org/10.1177/..
 
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4

BIOCHEMICAL, MOLECULAR, AND CLINICAL CHARACTERISTICS OF PER..:

Beltran, Carlos Mares ; Abdenur, Jose ; Chang, Richard...
Molecular Genetics and Metabolism.  138 (2023)  3 - p. 107455 , 2023
Link: https://doi.org/10.1016/..
 
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5

A homozygous Gly470Ala variant in PEX6 causes severe Zellwe..:

Galarreta, Carolina I. ; Wong, Karen ; Carmichael, Jason...
American Journal of Medical Genetics Part A.  191 (2023)  8 - p. 2057-2063 , 2023
Link: https://doi.org/10.1002/..
 
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6

P030: Expanding the differential for 2,3-dihydoxy-2-methylb..:

Niehaus, Annie ; Tahata, Shawn ; Cowan, Tina.
Genetics in Medicine Open.  1 (2023)  1 - p. 100040 , 2023
Link: https://doi.org/10.1016/..
 
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7

Neonatal lupus is a novel cause of positive newborn screeni..:

Niehaus, Annie D. ; Mendelsohn, Bryce A. ; Zimmerman, Bree...
American Journal of Medical Genetics Part A.  191 (2023)  5 - p. 1412-1417 , 2023
Link: https://doi.org/10.1002/..
 
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8

A survey of program directors for combined pediatrics and m..:

Niehaus, Annie D. ; Rassbach, Caroline E. ; Stevenson, David A.
American Journal of Medical Genetics Part A.  188 (2022)  8 - p. 2315-2324 , 2022
Link: https://doi.org/10.1002/..
 
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9

Phenotypic variability in RERE‐related disorders and the fi..:

Niehaus, Annie D. ; Kim, Jenny ; Manning, Melanie A.
American Journal of Medical Genetics Part A.  188 (2022)  11 - p. 3358-3363 , 2022
Link: https://doi.org/10.1002/..
 
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10

OP044: A survey of program directors for combined pediatric..:

Niehaus, Annie ; Rassbach, Caroline ; Stevenson, David
Genetics in Medicine.  24 (2022)  3 - p. S369-S370 , 2022
Link: https://doi.org/10.1016/..
 
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11

A survey assessing adoption of the ACMG-AMP guidelines for ..:

Niehaus, Annie ; Azzariti, Danielle R. ; Harrison, Steven M....
Genetics in Medicine.  21 (2019)  8 - p. 1699-1701 , 2019
Link: https://doi.org/10.1038/..
 
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12

Development of Clinical Domain Working Groups for the Clini..:

Milko, Laura V. ; Funke, Birgit H. ; Hershberger, Ray E....
Genetics in Medicine.  21 (2019)  4 - p. 987-993 , 2019
Link: https://doi.org/10.1038/..
 
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13

Development of a consent resource for genomic data sharing ..:

Riggs, Erin Rooney ; Azzariti, Danielle R. ; Niehaus, Annie...
Genetics in Medicine.  21 (2019)  1 - p. 81-88 , 2019
Link: https://doi.org/10.1038/..
 
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14

A standardized, evidence-based protocol to assess clinical ..:

Hunter, Jessica Ezzell ; Irving, Stephanie A. ; Biesecker, Leslie G....
Genetics in Medicine.  18 (2016)  12 - p. 1258-1268 , 2016
Link: https://doi.org/10.1038/..
 
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15

Using ClinVar as a Resource to Support Variant Interpretati..:

Harrison, Steven M. ; Riggs, Erin R. ; Maglott, Donna R....
Current Protocols in Human Genetics.  89 (2016)  1 - p. , 2016
Link: https://doi.org/10.1002/..
 
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