Found: 12
Select item for more details and to access through your institution.
Myopathy associated with homozygous PYROXD1 pathogenic variants detected by genome sequencing.
- Published in:
- Neuropathology, 2020, v. 40, n. 3, p. 302, doi. 10.1111/neup.12641
- By:
- Publication type:
- Article
Cases from the Undiagnosed Diseases Network: The continued value of counseling skills in a new genomic era.
- Published in:
- Journal of Genetic Counseling, 2019, v. 28, n. 2, p. 194, doi. 10.1002/jgc4.1091
- By:
- Publication type:
- Article
Non-cancer-related pathogenic germline variants and expression consequences in ten-thousand cancer genomes.
- Published in:
- Genome Medicine, 2021, v. 13, n. 1, p. 1, doi. 10.1186/s13073-021-00964-1
- By:
- Publication type:
- Article
Immune and Genetic Features of the Chromosome 22q11.2 Deletion (DiGeorge Syndrome).
- Published in:
- Current Allergy & Asthma Reports, 2018, v. 18, n. 12, p. 1, doi. 10.1007/s11882-018-0823-5
- By:
- Publication type:
- Article
Novel NUDT2 variant causes intellectual disability and polyneuropathy.
- Published in:
- Annals of Clinical & Translational Neurology, 2020, v. 7, n. 11, p. 2320, doi. 10.1002/acn3.51209
- By:
- Publication type:
- Article
P1‐123: VERY YOUNG ONSET AUTOSOMAL DOMINANT ALZHEIMER'S DISEASE WITH SPASTIC PARAPARESIS DUE TO A NOVEL (F388S) PSEN1 MUTATION.
- Published in:
- Alzheimer's & Dementia: The Journal of the Alzheimer's Association, 2019, v. 15, p. P282, doi. 10.1016/j.jalz.2019.06.678
- By:
- Publication type:
- Article
Characterization of spastic paraplegia in a family with a novel PSEN1 mutation.
- Published in:
- Brain Communications, 2023, v. 5, n. 2, p. 1, doi. 10.1093/braincomms/fcad030
- By:
- Publication type:
- Article
14q32.11 microdeletion including CALM1, TTC7B, PSMC1, and RPS6KA5: A new potential cause of developmental and language delay in three unrelated patients.
- Published in:
- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 5, p. 1519, doi. 10.1002/ajmg.a.62117
- By:
- Publication type:
- Article
Expansion of NEUROD2 phenotypes to include developmental delay without seizures.
- Published in:
- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 4, p. 1076, doi. 10.1002/ajmg.a.62064
- By:
- Publication type:
- Article
Phenotype delineation of ZNF462 related syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2019, v. 179, n. 10, p. 2075, doi. 10.1002/ajmg.a.61306
- By:
- Publication type:
- Article
Missed diagnoses: Clinically relevant lessons learned through medical mysteries solved by the Undiagnosed Diseases Network.
- Published in:
- Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 10, p. 1, doi. 10.1002/mgg3.1397
- By:
- Publication type:
- Article
Mutations in STAG2 cause an X‐linked cohesinopathy associated with undergrowth, developmental delay, and dysmorphia: Expanding the phenotype in males.
- Published in:
- Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 2, p. N.PAG, doi. 10.1002/mgg3.501
- By:
- Publication type:
- Article