Suchergebnisse - Rahman syndrome

1

Case Report: The success of face analysis technology in extremely rare genetic diseases in Korea: Tatton–Brown–Rahman syndrome and Say–Barber –Biesecker–Young–Simpson variant of ohdo syndrome

von: Sunha Park

2022, in: Frontiers in Genetics

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2

Aortic disease and cardiomyopathy in patients with a novel DNMT3A gene variant causing Tatton-Brown–Rahman syndrome

von: Zebrauskiene, Dovile

2024, in: Clinical epigenetics

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3

Exome sequencing identified a novel HIST1H1E heterozygous protein‐truncating variant in a 6‐month‐old male patient with Rahman syndrome: A case report

von: Subba Rao Indugula

2022, in: Clinical Case Reports

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4

Expanding the phenotype of DNMT3A as a cause a congenital myopathy with rhabdomyolysis

von: Ghaoui, Roula

2023, in: Neuromuscular disorders

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5

A case report of a novel HIST1H1E mutation and a review of the bibliography to evaluate the genotype–phenotype correlations

von: Wenjing Zhao

2023, in: Molecular Genetics & Genomic Medicine

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6

Expanding the mutational spectrum of Rahman syndrome: A rare disorder with severe intellectual disability and particular facial features in two Chinese patients

von: Jianbo Zhao

2022, in: Molecular Genetics & Genomic Medicine

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7

Frameshift mutations at the C-terminus of HIST1H1E result in a specific DNA hypomethylation signature

von: Ciolfi, Andrea

2020, in: Clinical epigenetics

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8

Case Report: Bilateral Epiphysiodesis Due to Extreme Tall Stature in a Girl With a De Novo DNMT3A Variant Associated With Tatton-Brown-Rahman Syndrome

von: Otto Lennartsson

2021, in: Frontiers in Endocrinology

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9

Development of a mouse embryonic stem cell model for investigating the functions of the linker histone H1‐4

von: Abed Alkarem Abu Alhaija

2024, in: FEBS Open Bio

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10

First identified Korean family with Tatton-Brown-Rahman Syndrome caused by the novel variant c.118G

von: Cha Gon Lee

2019, in: Annals of Pediatric Endocrinology & Metabolism

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11

Acromegaly in the setting of Tatton-Brown-Rahman Syndrome

von: Hage, C.

2019, in: Pituitary

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