Publications by authors named "Louise Amlie-Wolf"

3Publications

Three new patients with Steel syndrome and a Puerto Rican specific COL27A1 mutation.

Am J Med Genet A 2020 04 5;182(4):798-803. Epub 2020 Jan 5.

Division of General Diagnostic Radiology and the Section of Pediatric Radiology, Rutgers-Robert Wood Johnson Hospital, New Brunswick, New Jersey.

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http://dx.doi.org/10.1002/ajmg.a.61465DOI Listing
April 2020

MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with partial rhombencephalosynapsis.

Brain 2020 01;143(1):55-68

Laboratory of Embryology and Genetics of Human Malformation, Institut National de la Santé et de la Recherche Médicale (INSERM) UMR 1163, Institut Imagine, Paris, France.

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http://dx.doi.org/10.1093/brain/awz379DOI Listing
January 2020