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A Case of Congenital Hypotonia and Developmental Delay in an Individual with a De Novo Variant Outside of the Canonical HX-Motif of ATN1

Case reports in genetics, 2023-01, Vol.2023, p.1-5

2023

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A Case of Autosomal Recessive Intellectual Developmental Disorder Type 5 Presenting with Epilepsy

Case reports in genetics, 2022-11, Vol.2022, p.1-3

2022

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P320: When to consider genetic testing in infants with hip dysplasia

Genetics in Medicine Open, 2024, Vol.2, p.101214, Article 101214

2024

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P309: Two siblings with novel compound heterozygous variants in the EXTL3 gene

Genetics in Medicine Open, 2023, Vol.1 (1), p.100337, Article 100337

2023

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P410: Think beyond a unifying diagnosis: A case of dual diagnoses of Klinefelter syndrome and DYNC1H1-related disorder

Genetics in Medicine Open, 2024, Vol.2, p.101304, Article 101304

2024

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ERI1: A case report of an autosomal recessive syndrome associated with developmental delay and distal limb abnormalities

American journal of medical genetics. Part A, 2023-01, Vol.191 (1), p.64-69

2023

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eP172: A new and milder case of primary autosomal recessive microcephaly type 16

Genetics in medicine, 2022-03, Vol.24 (3), p.S105-S105

2022

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eP185: A novel, milder case of CHEDDA syndrome caused by a de novo variant outside of the canonical HX-motif of ATN1

Genetics in medicine, 2022-03, Vol.24 (3), p.S114-S115

2022

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eP107 - Atypical Leigh syndrome associated with compound heterozygous variants in NDUFAF5

Molecular genetics and metabolism, 2021-04, Vol.132, p.S73-S74

2021

Volltextzugriff (PDF)

Atypical Leigh syndrome associated with compound heterozygous variants in NDUFAF5

Molecular genetics and metabolism, 2021-04, Vol.132, p.S73-S74

2021

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Amino acid disorders

Annals of translational medicine, 2018-12, Vol.6 (24), p.471-471

2018

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Case report of atypical Leigh syndrome in an adolescent male with novel biallelic variants in NDUFAF5 and review of the natural history of NDUFAF5‐related disorders

American journal of medical genetics. Part A, 2022-03, Vol.188 (3), p.896-899

2022

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Prospective Pilot Study of a Single Daily Dosage of Trientine for the Treatment of Wilson Disease

Digestive diseases and sciences, 2015-05, Vol.60 (5), p.1433-1439

2015

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Ocular manifestations in a 2 year-old patient with a DYNC1H1 mutation

Ophthalmic genetics, 2023-11, Vol.44 (6), p.1-571

2023

Volltextzugriff (PDF)

A Case of Congenital Hypotonia and Developmental Delay in an Individual with a De Novo Variant Outside of the Canonical HX-Motif of ATN1

Case reports in genetics, 2023, Vol.2023, p.1581876

2023

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Messenger RNA rescues medium-chain acyl-CoA dehydrogenase deficiency in fibroblasts from patients and a murine model

Human molecular genetics, 2023-07, Vol.32 (14), p.2347-2356

2023

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ANALYSIS OF URINE HEPARAN SULFATE AND ITS NON-REDUCING ENDS FOR THE FOLLOW-UP OF ABNORMAL NEWBORN SCREENING FOR MPS1

Molecular genetics and metabolism, 2022-04, Vol.135 (4), p.281-282

2022

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Pitt Hopkins-Like Syndrome 1 with Novel CNTNAP2 Mutation in Siblings

Child neurology open, 2021-01, Vol.8, p.2329048

2021

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A Novel Homozygous Variant in the CHRNE Gene in 2 Siblings with Congenital Myasthenic Syndrome

Child neurology open, 2023-01, Vol.10

2023

Volltextzugriff (PDF)

Synthetic mRNA rescues very long-chain acyl-CoA dehydrogenase deficiency in patient fibroblasts and a murine model

Molecular genetics and metabolism, 2023-01, Vol.138 (1), p.106982-106982, Article 106982

2023

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Acute Necrotizing Encephalopathy: 2 Case Reports on RANBP2 Mutation

Child neurology open, 2021-01, Vol.8, p.2329048

2021

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A Case of Congenital Hypotonia and Developmental Delay in an Individual with a De Novo Variant Outside of the Canonical HX-Motif of ATN1

Case reports in genetics, 2023, Vol.2023, p.1581876-1581876

2023

Volltextzugriff (PDF)

Ocular manifestations in a 2 year-old patient with a DYNC1H1 mutation

Ophthalmic Genetics, 2022, Vol.ahead-of-print (ahead-of-print), p.1-4

2022

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A Case of Autosomal Recessive Intellectual Developmental Disorder Type 5 Presenting with Epilepsy

Case reports in genetics, 2022, Vol.2022, p.4056780-4056780

2022

Volltextzugriff (PDF)

A Novel Homozygous Variant in the CHRNE Gene in 2 Siblings with Congenital Myasthenic Syndrome

Child neurology open, 2023, Vol.10, p.2329048X231216432-2329048X231216432

2023

Volltextzugriff (PDF)

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A Case of Congenital Hypotonia and Developmental Delay in an Individual with a De Novo Variant Outside of the Canonical HX-Motif of ATN1

A Case of Autosomal Recessive Intellectual Developmental Disorder Type 5 Presenting with Epilepsy

P320: When to consider genetic testing in infants with hip dysplasia

P309: Two siblings with novel compound heterozygous variants in the EXTL3 gene

P410: Think beyond a unifying diagnosis: A case of dual diagnoses of Klinefelter syndrome and DYNC1H1-related disorder

ERI1: A case report of an autosomal recessive syndrome associated with developmental delay and distal limb abnormalities

eP172: A new and milder case of primary autosomal recessive microcephaly type 16

eP185: A novel, milder case of CHEDDA syndrome caused by a de novo variant outside of the canonical HX-motif of ATN1

eP107 - Atypical Leigh syndrome associated with compound heterozygous variants in NDUFAF5

Atypical Leigh syndrome associated with compound heterozygous variants in NDUFAF5

Amino acid disorders

Case report of atypical Leigh syndrome in an adolescent male with novel biallelic variants in NDUFAF5 and review of the natural history of NDUFAF5‐related disorders

Prospective Pilot Study of a Single Daily Dosage of Trientine for the Treatment of Wilson Disease

Ocular manifestations in a 2 year-old patient with a DYNC1H1 mutation

A Case of Congenital Hypotonia and Developmental Delay in an Individual with a De Novo Variant Outside of the Canonical HX-Motif of ATN1

Messenger RNA rescues medium-chain acyl-CoA dehydrogenase deficiency in fibroblasts from patients and a murine model

ANALYSIS OF URINE HEPARAN SULFATE AND ITS NON-REDUCING ENDS FOR THE FOLLOW-UP OF ABNORMAL NEWBORN SCREENING FOR MPS1

Pitt Hopkins-Like Syndrome 1 with Novel CNTNAP2 Mutation in Siblings

A Novel Homozygous Variant in the CHRNE Gene in 2 Siblings with Congenital Myasthenic Syndrome

Synthetic mRNA rescues very long-chain acyl-CoA dehydrogenase deficiency in patient fibroblasts and a murine model

Acute Necrotizing Encephalopathy: 2 Case Reports on RANBP2 Mutation

A Case of Congenital Hypotonia and Developmental Delay in an Individual with a De Novo Variant Outside of the Canonical HX-Motif of ATN1

Ocular manifestations in a 2 year-old patient with a DYNC1H1 mutation

A Case of Autosomal Recessive Intellectual Developmental Disorder Type 5 Presenting with Epilepsy

A Novel Homozygous Variant in the CHRNE Gene in 2 Siblings with Congenital Myasthenic Syndrome

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