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Acanthocytosis and the c.680 A>G Mutation in the PANK2 Gene: A Study Enrolling a Cohort of PKAN Patients from the Dominican Republic

PloS one, 2015-04, Vol.10 (4), p.e0125861

2015

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Acanthocytosis and the c.680 AG Mutation in the PANK2 Gene: A Study Enrolling a Cohort of PKAN Patients from the Dominican Republic

PloS one, 2015-04, Vol.10 (4)

2015

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Activated Immune System in Patients with Huntington's Disease

Clinical chemistry and laboratory medicine, 1998-10, Vol.36 (10), p.747-750

1998

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Age related axonal neuropathy in spinocerebellar ataxia type 3/Machado-Joseph disease (SCA3/MJD)

Journal of neurology, neurosurgery and psychiatry, 1999-02, Vol.66 (2), p.222-224

1999

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Aneuploidy detection in pooled polar bodies using rapid nanopore sequencing

Journal of assisted reproduction and genetics, 2024-05, Vol.41 (5), p.1261-1271

2024

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Autosomal dominant Carvajal plus syndrome due to the novel desmoplakin mutation c.1678A>T (p.Ile560Phe)

Molecular genetics and metabolism reports, 2016-09, Vol.8 (C), p.1-3

2016

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Autosomal dominant Carvajal plus syndrome due to the novel desmoplakin mutation c.1678A > T (p.Ile560Phe)

Molecular genetics and metabolism reports, 2016, Vol.8, p.1-3

2016

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Autosomal dominant optic atrophy plus due to the novel OPA1 variant c.1463G>C

Metabolic brain disease, 2019-08, Vol.34 (4), p.1023-1027

2019

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Autosomal recessive cutis laxa type Ib—Successful redo aortic root and arch replacement

Clinical case reports, 2022-12, Vol.10 (12), p.e6573-n/a

2022

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Brain malformations in diprosopia observed in clinical cases, museum specimens and artistic representations

Orphanet journal of rare diseases, 2023-03, Vol.18 (1), p.57-57, Article 57

2023

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Case Report: Retracing Atypical Development: A Preserved Speech Variant of Rett Syndrome

Journal of autism and developmental disorders, 2009-06, Vol.39 (6), p.958-961

2009

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Characterization of Choriocapillaris and Choroidal Abnormalities in Alport Syndrome

Translational vision science & technology, 2022-03, Vol.11 (3), p.23-23

2022

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Chronic thalamic stimulation in a patient with spinocerebellar ataxia type 2

Movement disorders, 2003-02, Vol.18 (2), p.222-225

2003

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The clinical and molecular landscape of congenital myasthenic syndromes in Austria: a nationwide study

Journal of neurology, 2023-02, Vol.270 (2), p.909-916

2023

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The clinical and mutational spectrum of B3GAT3 linkeropathy: two case reports and literature review

Orphanet journal of rare diseases, 2019-06, Vol.14 (1), p.138-138, Article 138

2019

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Clinical Phenotype and Bone Biopsy Characteristics in a Child with Proteus Syndrome

Calcified tissue international, 2021-11, Vol.109 (5), p.586-595

2021

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Correction: Increasing Live Birth Rate by Preimplantation Genetic Screening of Pooled Polar Bodies Using Array Comparative Genomic Hybridization

PloS one, 2015-07, Vol.10 (7), p.e0133334-e0133334

2015

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COVID-19 as a putative trigger of anti-MDA5-associated dermatomyositis with acute respiratory distress syndrome (ARDS) requiring lung transplantation, a case report

BMC rheumatology, 2022-07, Vol.6 (1), p.42-42, Article 42

2022

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Desbuquois dysplasia type I and fetal hydrops due to novel mutations in the CANT1 gene

European journal of human genetics : EJHG, 2011-11, Vol.19 (11), p.1133-1137

2011

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Detection of survival motor neuron protein in buccal cells through electrochemiluminescence-based assay

Assay and drug development technologies, 2015-04, Vol.13 (3), p.167-173

2015

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Developmental, Cognitive, Ocular Motor, and Neuroimaging Findings Related to SUFU Haploinsufficiency: Unraveling Subtle and Highly Variable Phenotypes

Pediatric neurology, 2024-11, Vol.160, p.38-44

2024

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Dilated, Arrhythmogenic Cardiomyopathy in Emery-Dreifuss Muscular Dystrophy Due to the Emerin Splice-Site Mutation c.449 + 1G>A

Cardiology, 2015-01, Vol.130 (1), p.48-51

2015

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Disruption of Netrin G1 by a balanced chromosome translocation in a girl with Rett syndrome

European journal of human genetics : EJHG, 2005-08, Vol.13 (8), p.921-927

2005

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Distal Arthrogryposis with Impaired Proprioception and Touch: Description of an Early Phenotype in a Boy with Compound Heterozygosity of PIEZO2 Mutations and Review of the Literature

Molecular syndromology, 2019-01, Vol.9 (6), p.287-294

2019

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Distal myosin heavy chain-7 myopathy due to the novel transition c.5566G > A (p.E1856K) with high interfamilial cardiac variability and putative anticipation

Neuromuscular disorders : NMD, 2014-08, Vol.24 (8), p.721-725

2014

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Acanthocytosis and the c.680 A>G Mutation in the PANK2 Gene: A Study Enrolling a Cohort of PKAN Patients from the Dominican Republic

Acanthocytosis and the c.680 AG Mutation in the PANK2 Gene: A Study Enrolling a Cohort of PKAN Patients from the Dominican Republic

Activated Immune System in Patients with Huntington's Disease

Age related axonal neuropathy in spinocerebellar ataxia type 3/Machado-Joseph disease (SCA3/MJD)

Aneuploidy detection in pooled polar bodies using rapid nanopore sequencing

Autosomal dominant Carvajal plus syndrome due to the novel desmoplakin mutation c.1678A>T (p.Ile560Phe)

Autosomal dominant Carvajal plus syndrome due to the novel desmoplakin mutation c.1678A > T (p.Ile560Phe)

Autosomal dominant optic atrophy plus due to the novel OPA1 variant c.1463G>C

Autosomal recessive cutis laxa type Ib—Successful redo aortic root and arch replacement

Brain malformations in diprosopia observed in clinical cases, museum specimens and artistic representations

Case Report: Retracing Atypical Development: A Preserved Speech Variant of Rett Syndrome

Characterization of Choriocapillaris and Choroidal Abnormalities in Alport Syndrome

Chronic thalamic stimulation in a patient with spinocerebellar ataxia type 2

The clinical and molecular landscape of congenital myasthenic syndromes in Austria: a nationwide study

The clinical and mutational spectrum of B3GAT3 linkeropathy: two case reports and literature review

Clinical Phenotype and Bone Biopsy Characteristics in a Child with Proteus Syndrome

Correction: Increasing Live Birth Rate by Preimplantation Genetic Screening of Pooled Polar Bodies Using Array Comparative Genomic Hybridization

COVID-19 as a putative trigger of anti-MDA5-associated dermatomyositis with acute respiratory distress syndrome (ARDS) requiring lung transplantation, a case report

Desbuquois dysplasia type I and fetal hydrops due to novel mutations in the CANT1 gene

Detection of survival motor neuron protein in buccal cells through electrochemiluminescence-based assay

Developmental, Cognitive, Ocular Motor, and Neuroimaging Findings Related to SUFU Haploinsufficiency: Unraveling Subtle and Highly Variable Phenotypes

Dilated, Arrhythmogenic Cardiomyopathy in Emery-Dreifuss Muscular Dystrophy Due to the Emerin Splice-Site Mutation c.449 + 1G>A

Disruption of Netrin G1 by a balanced chromosome translocation in a girl with Rett syndrome

Distal Arthrogryposis with Impaired Proprioception and Touch: Description of an Early Phenotype in a Boy with Compound Heterozygosity of PIEZO2 Mutations and Review of the Literature

Distal myosin heavy chain-7 myopathy due to the novel transition c.5566G > A (p.E1856K) with high interfamilial cardiac variability and putative anticipation

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