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You searched for: Author/Creator Kitajima, João Paulo

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1. A defect in the RNA-processing protein HNRPDL causes limb-girdle muscular dystrophy 1G (LGMD1G). (18th March 2014)

2. A genome sequence resource for the genus Passiflora, the genome of the wild diploid species Passiflora organensis. Issue 3 (23rd July 2021)

3. A Novel Multisystem Proteinopathy Caused by a Missense ANXA11 Variant. Issue 2 (14th June 2021)

4. Ceroid lipofuscinosis type 5: novel pathogenic variants and unexpected phenotypic findings. Issue 5 (3rd February 2023)

5. Homozygous missense mutation in MED25 segregates with syndromic intellectual disability in a large consanguineous family. Issue 2 (19th December 2014)

6. Intragenic variants in the SMN1 gene determine the clinical phenotype in 5q spinal muscular atrophy. (October 2020)

7. The complete mitochondrial genome of Bothrops jararaca (Reptilia, Serpentes, Viperidae). Issue 1 (1st January 2016)