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Case Reports in Genetics|March 7, 2017
Urea Cycle Defects: Early-Onset Disease Associated with A208T Mutation in OTC Gene-Expanding the Clinical PhenotypeAna Isabel Sánchez, Alejandra Rincón, Mary García, et al.Case Reports in Genetics|August 21, 2019
A Start Codon Variant in NOG Underlies Symphalangism and Ossicular Chain Malformations Affecting Both the Incus and the StapesNathan R Lindquist, Eric N Appelbaum, Anushree Acharya, et al.Case Reports in Genetics|February 16, 2026
Three Unrelated Children With Childhood Apraxia of Speech: Exome Sequencing and Functional Gene Analysis Imply a Role of Laminin-511 in Early NeurodevelopmentCaitlin Raaz, Laurel Bruce, Madhavi Ganapathiraju, et al.Case Reports in Genetics|March 20, 2013
First trimester diagnosis of holoprosencephaly secondary to a ring chromosome 7Lindsay B Henderson, Virginia L Corson, Daniel O Saul, et al.Case Reports in Genetics|February 21, 2013
Sporadic Fibrodysplasia Ossificans Progressiva in an Egyptian Infant with c.617G > A Mutation in ACVR1 Gene: A Case Report and Review of LiteratureMohammad Al-Haggar, Nermin Ahmad, Sohier Yahia, et al.Case Reports in Genetics|July 19, 2013
Expanding the BP1-BP2 15q11.2 Microdeletion Phenotype: Tracheoesophageal Fistula and Congenital CataractsD Wong, S M Johnson, D Young, et al.Case Reports in Genetics|January 16, 2013
Novel Vascular Malformation in an Affected Newborn with Deletion Del(4)(q31.3)Norma Elena de León Ojeda, Michel Soriano-Torres, Mercedes J Cabrera, et al.Case Reports in Genetics|March 12, 2013
MURCS Association with Partial Duplication of the Distal Long Chromosome 5 and Unilateral Ovarian AgenesisAnna Dabkowska-Huc, Piotr Skalba, Antoni PyrkoszCase Reports in Genetics|March 12, 2013
An interstitial 20q11.21 microdeletion causing mild intellectual disability and facial dysmorphismsIvan Y Iourov, Svetlana G Vorsanova, Oxana S Kurinnaia, et al.Case Reports in Genetics|October 2, 2013
A male with cooccurrence of down syndrome and fragile x syndromeTovi Anderson, Allison Buterbaugh, Kaitlin Love, et al.Pageof 34