Publications
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Filters: Keyword is Phenotype and Author is Lalani, Seema R [Clear All Filters]
Review of the phenotypic spectrum associated with haploinsufficiency of MYRF. Am J Med Genet A. 2019 ;179(7):1376-1382.
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CRIPT exonic deletion and a novel missense mutation in a female with short stature, dysmorphic features, microcephaly, and pigmentary abnormalities. Am J Med Genet A. 2016 ;170(8):2206-11.
. MIPEP recessive variants cause a syndrome of left ventricular non-compaction, hypotonia, and infantile death. Genome Med. 2016 ;8(1):106.
. Spectrum of CHD7 mutations in 110 individuals with CHARGE syndrome and genotype-phenotype correlation. Am J Hum Genet. 2006 ;78(2):303-14.
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