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Novel SLC9A6 mutations in two families with Christianson syndrome

Clinical genetics, 2013-06, Vol.83 (6), p.596-597

2013

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Mirror-Image Asymmetry in Monozygotic Twins with Kabuki Syndrome

Molecular syndromology, 2012-08, Vol.3 (2), p.94-97

2012

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Citrin deficiency mimicking mitochondrial depletion syndrome

BMC pediatrics, 2020-11, Vol.20 (1), p.518-518, Article 518

2020

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Novel SLC9A6 mutations in two families with Christianson syndrome

Clinical genetics, 2013, Vol.83 (6), p.596-597

2013

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Novel homozygous LAMB1 in-frame deletion in a pediatric patient with brain anomalies and cerebrovascular event

American journal of medical genetics. Part A, 2023-10, Vol.191 (10), p.2656-2663

2023

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Further evidence for de novo variants in SYNCRIP as the cause of a neurodevelopmental disorder

Human mutation, 2021-09, Vol.42 (9), p.1094-1100

2021

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Eine 63-jährige Patientin mit Bronchiektasen altersuntypischer Ätiologie

Pneumologe, 2014-09, Vol.11 (5), p.441-443

2014

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SOPH syndrome in three affected individuals showing similarities with progeroid cutis laxa conditions in early infancy

Journal of human genetics, 2019-07, Vol.64 (7), p.609-616

2019

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KCNC1‐related disorders: new de novo variants expand the phenotypic spectrum

Annals of clinical and translational neurology, 2019-07, Vol.6 (7), p.1319-1326

2019

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Extremely low arylsulfatase A enzyme activity does not necessarily cause symptoms: A long‐term follow‐up and review of the literature

JIMD reports, 2022-07, Vol.63 (4), p.292-302

2022

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GFPT1-Associated Congenital Myasthenic Syndrome Mimicking a Glycogen Storage Disease - Diagnostic Pitfalls in Myopathology Solved by Next-Generation-Sequencing

Journal of neuromuscular diseases, 2022-01, Vol.9 (4), p.533-541

2022

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Assay of β-glucosidase 2 (GBA2) activity using lithocholic acid β-3-O-glucoside substrate for cultured fibroblasts and glucosylceramide for brain tissue

Biological chemistry, 2019-05, Vol.400 (6), p.745

2019

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Predicting clinical phenotypes of metachromatic leukodystrophy based on the arylsulfatase A activity and the ARSA genotype? – Chances and challenges

Molecular genetics and metabolism, 2022-11, Vol.137 (3), p.273-282

2022

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Patient‐individual phenotypes of glioblastoma stem cells are conserved in culture and associate with radioresistance, brain infiltration and patient prognosis

International journal of cancer, 2022-05, Vol.150 (10), p.1722-1733

2022

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Next-generation sequencing in X-linked intellectual disability

European journal of human genetics : EJHG, 2015-11, Vol.23 (11), p.1513-1518

2015

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Genetic and neurodevelopmental spectrum of SYNGAP1-associated intellectual disability and epilepsy

Journal of medical genetics, 2016-08, Vol.53 (8), p.511-522

2016

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Angiokeratoma corporis diffusum with severe acroparesthesia, an endothelial abnormality, and inconspicuous genetic findings

Journal of cutaneous pathology, 2022-03, Vol.49 (3), p.293-298

2022

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Blue Diaper Syndrome and PCSK1 Mutations

Pediatrics (Evanston), 2018-04, Vol.141 (Suppl 5), p.S501

2018

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FOXP2 variants in 14 individuals with developmental speech and language disorders broaden the mutational and clinical spectrum

Journal of medical genetics, 2017-01, Vol.54 (1), p.64

2017

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Comparative Analysis of Cerebral Magnetic Resonance Imaging Changes in Nontreated Infantile, Juvenile and Adult Patients with Niemann-Pick Disease Type C

Neuropediatrics, 2020-02, Vol.51 (1), p.37

2020

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Clinical, ocular motor, and imaging profile of Niemann-Pick type C heterozygosity

Neurology, 2020-04, Vol.94 (16), p.e1702

2020

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Phenotypic variation between siblings with Metachromatic Leukodystrophy

Orphanet journal of rare diseases, 2019-06, Vol.14 (1), p.136-136, Article 136

2019

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Novel Variants of SOX4 in Patients with Intellectual Disability

International journal of molecular sciences, 2023-02, Vol.24 (4), p.3519

2023

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Novel SLC9A6 mutations in two families with Christianson syndrome

Mirror-Image Asymmetry in Monozygotic Twins with Kabuki Syndrome

Citrin deficiency mimicking mitochondrial depletion syndrome

Novel SLC9A6 mutations in two families with Christianson syndrome

Novel homozygous LAMB1 in-frame deletion in a pediatric patient with brain anomalies and cerebrovascular event

Further evidence for de novo variants in SYNCRIP as the cause of a neurodevelopmental disorder

Eine 63-jährige Patientin mit Bronchiektasen altersuntypischer Ätiologie

SOPH syndrome in three affected individuals showing similarities with progeroid cutis laxa conditions in early infancy

KCNC1‐related disorders: new de novo variants expand the phenotypic spectrum

Extremely low arylsulfatase A enzyme activity does not necessarily cause symptoms: A long‐term follow‐up and review of the literature

GFPT1-Associated Congenital Myasthenic Syndrome Mimicking a Glycogen Storage Disease - Diagnostic Pitfalls in Myopathology Solved by Next-Generation-Sequencing

Assay of β-glucosidase 2 (GBA2) activity using lithocholic acid β-3-O-glucoside substrate for cultured fibroblasts and glucosylceramide for brain tissue

Predicting clinical phenotypes of metachromatic leukodystrophy based on the arylsulfatase A activity and the ARSA genotype? – Chances and challenges

Patient‐individual phenotypes of glioblastoma stem cells are conserved in culture and associate with radioresistance, brain infiltration and patient prognosis

Next-generation sequencing in X-linked intellectual disability

Genetic and neurodevelopmental spectrum of SYNGAP1-associated intellectual disability and epilepsy

Angiokeratoma corporis diffusum with severe acroparesthesia, an endothelial abnormality, and inconspicuous genetic findings

Bi-allelic loss-of-function variants in KIF21A cause severe fetal akinesia with arthrogryposis multiplex

Blue Diaper Syndrome and PCSK1 Mutations

FOXP2 variants in 14 individuals with developmental speech and language disorders broaden the mutational and clinical spectrum

Comparative Analysis of Cerebral Magnetic Resonance Imaging Changes in Nontreated Infantile, Juvenile and Adult Patients with Niemann-Pick Disease Type C

Clinical, ocular motor, and imaging profile of Niemann-Pick type C heterozygosity

Bi-allelic variants of FILIP1 cause congenital myopathy, dysmorphism and neurological defects

Phenotypic variation between siblings with Metachromatic Leukodystrophy

Novel Variants of SOX4 in Patients with Intellectual Disability

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