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AMY BAUMER, MD
MD
Pediatrics Physician
NPI: 1104837087Individual
Specialties, Licenses & Credentials
Research & Publications (20)
No evidence for mutations of CTCFL/BORIS in Silver-Russell syndrome patients with IGF2/H19 imprinting control region 1 hypomethylation.
PMID 19675668·PLoS One·2009
8-other
Epigenetic mutations of the imprinted IGF2-H19 domain in Silver-Russell syndrome (SRS): results from a large cohort of patients with SRS and SRS-like phenotypes.
PMID 19066168·J Med Genet·2009
8-other
Identification of non-recurrent submicroscopic genome imbalances: the advantage of genome-wide microarrays over targeted approaches.
PMID 18159213·Eur J Hum Genet·2008
8-other
Clinical delineation of Giuffrè-Tsukahara syndrome: another case with microcephaly and radio-ulnar synostosis with apparent X-linked semi-dominant inheritance.
PMID 18449925·Am J Med Genet A·2008
5-case
Monochorionic-diamniotic twins discordant in gender from a naturally conceived pregnancy through postzygotic sex chromosome loss in a 47,XXY zygote.
PMID 18567067·Prenat Diagn·2008
5-case
Phylogenetic characterization of H5N1 highly pathogenic avian influenza viruses isolated in Switzerland in 2006.
PMID 18787938·Virus Genes·2008
7-preclinical
Duplications in addition to terminal deletions are present in a proportion of ring chromosomes: clues to the mechanisms of formation.
PMID 18006671·J Med Genet·2008
8-other
Initial maternal meiotic I error leading to the formation of a maternal i(2q) and a paternal i(2p) in a healthy male.
PMID 17901698·Cytogenet Genome Res·2007
5-case
[Avian influenza: wildbird monitoring in Switzerland between 2003-2006].
PMID 18085164·Schweiz Arch Tierheilkd·2007
7-preclinical
Chromosomal heteromorphisms may help for the diagnosis of uniparental disomy (UPD): a case report.
PMID 17705156·Prenat Diagn·2007
5-case
Data courtesy of the U.S. National Library of Medicine (NLM). Ltrl is not affiliated with or endorsed by NLM.
Contact & Hours
- Address
- 505 WILLARD AVE, BUILDING 2, SUITE C
NEWINGTON, CT 06111 - Phone
- (860) 666-5601
Quick Facts
- NPI
- 1104837087
- Entity Type
- Individual
- Gender
- Female
- Medicare
- Not confirmed
- Specialties
- 1
- Locations
- 1
- Publications
- 20
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