Works by Brault, Jennifer
Results: 6
An apparent new syndrome of extreme short stature, microcephaly, dysmorphic faces, intellectual disability, and a bone dysplasia of unknown etiology.
- Published in:
- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 7, p. 1562, doi. 10.1002/ajmg.a.61619
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- Article
Patients With Extreme Early Onset Juvenile Huntington Disease Can Have Delays in Diagnosis: A Case Report and Literature Review.
- Published in:
- Child Neurology Open, 2021, p. 1, doi. 10.1177/2329048X211036137
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- Article
Patients With Extreme Early Onset Juvenile Huntington Disease Can Have Delays in Diagnosis: A Case Report and Literature Review.
- Published in:
- Child Neurology Open, 2021, p. 1, doi. 10.1177/2329048X211036137
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- Publication type:
- Article
A novel, likely pathogenic variant in UBTF‐related neurodegeneration with brain atrophy is associated with a severe divergent neurodevelopmental phenotype.
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- Molecular Genetics & Genomic Medicine, 2022, v. 10, n. 12, p. 1, doi. 10.1002/mgg3.2054
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- Article
Whole genome sequencing reveals novel IGHMBP2 variant leading to unique cryptic splice‐site and Charcot‐Marie‐Tooth phenotype with early onset symptoms.
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- Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 6, p. N.PAG, doi. 10.1002/mgg3.676
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- Article
Practical Approaches and Knowledge Gaps in the Care for Children With Leukodystrophies.
- Published in:
- Journal of Child Neurology, 2021, v. 36, n. 1, p. 65, doi. 10.1177/0883073820946154
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- Article