A De Novo Mutation in ACTC1 and a TTN Variant Linked to a Severe Sporadic Infant Dilated Cardiomyopathy Case.
- Published in:
- 2024
- By:
- Publication type:
- Case Study
Works matching IS 20906544 AND DT 2024
Results: 16
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Generalized Epileptic Seizures in Fibrodysplasia Ossificans Progressiva Harboring a Recurrent Heterozygous Variant of the ACVR1 Gene (R206H).
- Published in:
- 2024
- By:
- Publication type:
- Case Study
3
A Case Report on 13q12.3 Microdeletion Syndrome Caused by HMGB1 Haploinsufficiency.
- Published in:
- 2024
- By:
- Publication type:
- Case Study
4
Geroderma Osteodysplastica With Concomitant Transposition of Great Vessels: A Case Report and Literature Review.
- Published in:
- 2024
- By:
- Publication type:
- Case Study
5
Intellectual Disability and Blended Phenotypes: Insights from a Centre in North India.
- Published in:
- 2024
- By:
- Publication type:
- Case Study
6
Constitutional Chromothripsis on Chromosome 2: A Rare Case with Severe Presentation.
- Published in:
- 2024
- By:
- Publication type:
- Case Study
7
A De Novo Missense MYLK Variant Leading to Nonsyndromic Thoracic Aortic Aneurysm and Dissection Identified by Segregation Analysis.
- Published in:
- 2024
- By:
- Publication type:
- Case Study
8
Genital Abnormalities and Growth Retardation as Early Signs of Dilated Cardiomyopathy with Ataxia Syndrome.
- Published in:
- 2024
- By:
- Publication type:
- Case Study
9
Two Pediatric Cases of Primary Ciliary Dyskinesia Caused by Loss‐of‐Function Variants in Oral‐Facial‐Digital Syndrome Gene, OFD1.
- Published in:
- 2024
- By:
- Publication type:
- Case Study
10
Discovery of a Novel DYRK1A Mutation (c.524del) in Intellectual Development Disorder Autosomal Dominant 7 (MRD7): A Comprehensive Case Analysis.
- Published in:
- 2024
- By:
- Publication type:
- Case Study
11
A Novel Heterozygous De Novo MORC2 Missense Variant Causes an Early Onset and Severe Neurodevelopmental Disorder.
- Published in:
- 2024
- By:
- Publication type:
- Case Study
12
Phenotype‐Genotype Discordance and a Case of a Disorder of Sexual Differentiation.
- Published in:
- 2024
- By:
- Publication type:
- Case Study
13
Quadruple Primary Malignancies over 2 Years with Germline Mutation in Krebs Cycle Enzyme Gene Fumarate Hydratase.
- Published in:
- 2024
- By:
- Publication type:
- Case Study
14
A Fatal Case of 3‐Hydroxyisobutyryl‐CoA Hydrolase Deficiency in a Term Infant with Severe High Anion Gap Acidosis and Review of the Literature.
- Published in:
- 2024
- By:
- Publication type:
- Case Study
15
Mitochondrial DNA Missense Mutations ChrMT: 8981A > G and ChrMT: 6268C > T Identified in a Caucasian Female with Myalgic Encephalomyelitis/Chronic Fatigue Syndrome (ME/CFS) Triggered by the Epstein–Barr Virus.
- Published in:
- 2024
- By:
- Publication type:
- Case Study
16
Bilateral Glaucoma as Possible Additional Feature for PGAP3-Associated Hyperphosphatasia.
- Published in:
- 2024
- By:
- Publication type:
- Case Study