MislenStolBauerMD

PubMed

• Bi-allelic ACBD6 variants lead to a neurodevelopmental syndrome with progressive and complex movement disorders.
  Rauan Kaiyrzhanov, Aboulfazl Rad, Sheng-Jia Lin, Aida Bertoli-Avella, Wouter W Kallemeijn, Annie Godwin, Maha S Zaki, Kevin Huang, Tracy Lau, Cassidy Petree, Stephanie...> ;Brain. 2024 Apr 4
• 2 citations
  Gingivosupraperiosteoplasty following Presurgical Maxillary Orthopedics Is Associated with Normal Midface Growth in Complete Unilateral and Bilateral Cleft Patients at...
  Martha Mejia, Erin M. Wolfe, Blake D. Murphy, Leonard Rothenberg, Ana Tejero, Mislen Bauer, S. Anthony Wolfe> ;Plastic and Reconstructive Surgery. 2021 Dec 1
• Gastric Adenocarcinoma and Proximal Polyposis of the Stomach in a Hispanic Pediatric Patient With APC Gene Variant c.-191T>G.
  Annette Gawron Roberts, Malgorzata Bujarska, Mislen Bauer, Carole Brathwaite, Liset Pelaez, Jesse Reeves-Garcia> ;JPGN Reports. 2021 Nov 1
• 15 citations
  A novel FAM20C mutation causes a rare form of neonatal lethal Raine syndrome.
  Christina Hung, Mario Rodriguez, Abra Roberts, Mislen Bauer, Ivana Mihalek, Olaf Bodamer> ;American Journal of Medical Genetics. Part A. 2019 Sep 1
• 8 citations
  Individual heat map assessments demonstrate vestronidase alfa treatment response in a highly heterogeneous mucopolysaccharidosis VII study population.
  Christine Haller, Wenjie Song, Tricia Cimms, Chao Yin Chen, Chester B. Whitley, Raymond Y. Wang, Mislen Bauer, Paul Harmatz> ;JIMD Reports. 2019 Sep 1
• 40 citations
  A novel Blind Start study design to investigate vestronidase alfa for mucopolysaccharidosis VII, an ultra-rare genetic disease.
  Paul Harmatz, Chester B. Whitley, Raymond Y. Wang, Mislen Bauer, Wenjie Song, Christine Haller, Emil D. Kakkis> ;Molecular Genetics and Metabolism. 2018 Apr 1
• 10 citations
  Ophthalmic findings in Frank-ter Haar syndrome: report of a sibling pair.
  Ta C. Chang, Mislen Bauer, Herminia Puerta, Matthew B. Greenberg, Kara M. Cavuoto> ;Journal of AAPOS. 2017 Dec 1
• 17 citations
  New JAG1 mutation causing Alagille Syndrome presenting with severe hypercholesterolemia: Case report with emphasis on genetics and lipid abnormalities
  Zeina C. Hannoush, Herminia Puerta, Mislen Bauer, Ronald B. Goldberg> ;The Journal of Clinical Endocrinology and Metabolism. 2016 Dec 14
• 43 citations
  De novo mutations in PURA are associated with hypotonia and developmental delay
  Akemi J. Tanaka, Renkui Bai, Megan T. Cho, Kwame Anyane-Yeboa, Priyanka Ahimaz, Ashley Wilson, Fran Kendall, Beverly N. Hay, Timothy J. Moss, Monica Nardini, Mislen Ba...> ;Cold Spring Harbor Molecular Case Studies. 2015 Oct 1
• 4 citations
  Two extraordinarily severe cases of Treacher Collins syndrome.
  Mislen Bauer, Wilmar Saldarriaga, S. Anthony Wolfe, J. Bruce Beckwith, Jaime L. Frias, M. Michael Cohen> ;American Journal of Medical Genetics. Part A. 2013 Mar 1
• 35 citations
  Phenotype and Natural History in Marshall-Smith Syndrome
  Adam Shaw, Inge D. C. van Balkom, Mislen Bauer, Trevor Cole, Marie-Ange Delrue, Arie van Haeringen, Eva Holmberg, Samantha J. L. Knight, Geert Mortier, Sheela Nampooth...> ;American Journal of Medical Genetics. Part A. 2010 Nov 1
• 15 citations
  Epiretinal membranes indicate a severe phenotype of neurofibromatosis type 2.
  Robert A. Sisk, Audina M. Berrocal, Amy C. Schefler, Sander R. Dubovy, Mislen Bauer> ;Retina. 2010 Apr 1
• 209 citations
  Early Treatment with Alglucosidase Alfa Prolongs Long Term Survival of Infants with Pompe Disease
  Priya S. Kishnani, Deya Corzo, Nancy D. Leslie, Daniel Gruskin, Ans T. van der Ploeg, John P. Clancy, R. Parini, Gilles Morin, Michael Beck, Mislen Bauer, Mikael Jokic...> ;Pediatric Research. 2009 Sep 1
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