DesireeKayCzapansky-BeilmanMD

PubMed

• 76 citations
  Defining the phenotypic spectrum of SLC6A1 mutations.
  Katrine M Johannesen, Elena Gardella, Tarja Linnankivi, Carolina Courage, Anne de Saint Martin, Anna-Elina Lehesjoki, Cyril Mignot, Alexandra Afenjar, Gaetan Lesca, Ma...> ;Epilepsia. 2018 Feb 1
• 75 citations
  Recurrent 10q22-q23 Deletions: A Genomic Disorder on 10q Associated with Cognitive and Behavioral Abnormalities
  Jorune Balciuniene, Ningping Feng, Kelly Iyadurai, Betsy A. Hirsch, Lawrence Charnas, Brent R. Bill, Mathew C. Easterday, Johan Staaf, Le Ann Oseth, Desiree Czapansky-...> ;American Journal of Human Genetics. 2007 May 1
• Idiopathic intracranial hypertension immediately after kidney transplantation in a pediatric recipient.
  Sookkasem Khositseth, Blanche M. Chavers, Desiree Czapansky-Beilman, Michael Mauer> ;Pediatric Nephrology. 2004 Sep 17
• 66 citations
  Bilateral periventricular nodular heterotopia with mental retardation and syndactyly in boys: A new X-linked mental retardation syndrome
  William B. Dobyns, Renzo Guerrini, Desiree Czapansky-Beilman, Mary Ella M Pierpont, Galen N. Breningstall, D. H. Yock, Paolo Bonanni, Chip Truwit> ;Neurology. 1997 Oct 1
• 165 citations
  X-linked malformations of neuronal migration
  William B. Dobyns, Eva Andermann, F. Andermann, Desiree Czapansky-Beilman, François Dubeau, Olivier Dulac, Renzo Guerrini, Betsy A. Hirsch, David H. Ledbetter, Namsoo ...> ;Neurology. 1996 Aug 1
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