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Случай инверсии хромосомы 4 и несбалансированной транслокации между коротким плечом хромосомы 4 и длинным плечом хромосомы 18 у девочки: эволюция клинических и электроэнцефалографических проявлений

Alternatively Splicing Interactomes Identify Novel Isoform-Specific Partners for NSD2

Natural history study of adults with Wolf–Hirschhorn syndrome 2: Patient‐reported outcomes study

Wolf–Hirschhorn syndrome candidate 1 facilitates alveolar macrophage pyroptosis in sepsis-induced acute lung injury through NEK7-mediated NLRP3 inflammasome activation

Natural history study of adults with Wolf–Hirschhorn syndrome 1: Case series of personally observed 35 individuals

Loss-of-function and missense variants in NSD2 cause decreased methylation activity and are associated with a distinct developmental phenotype

Wolf-Hirschhorn Syndrome: Clinical and Genetic Study of 7 New Cases, and Mini Review

LETM1 is required for mitochondrial homeostasis and cellular viability

Non-invasive prenatal testing by low coverage genomic sequencing: Detection limits of screened chromosomal microdeletions

De novo truncating variant in NSD2gene leading to atypical Wolf-Hirschhorn syndrome phenotype

Beyond the Phenotype: A Pediatric Case Series of Seizure and EEG Characteristics in Wolf-Hirschhorn Syndrome

Diagnostic value of chromosomal microarray in fetuses with isolated hypoplastic nasal bone

LETM1: Essential for Mitochondrial Biology and Cation Homeostasis?

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P84 Apnoeic event in wolf-hirschhorn syndrome: could this have been a ‘Tet’ spell?

A case report of infant with robertsonian translocation

Partial Monosomy 4p and Trisomy 12q due to a t(4;12)(p16.3;q24.31) Familial Translocation in Two Cousins

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Chromosomal microarray analysis of 339 fetuses with increased nuchal translucency and normal karyotype

Clinical experience with multiplex ligation-dependent probe amplification for microdeletion syndromes in prenatal diagnosis: 7522 pregnant Korean women

The histone methyltransferase WHSC1 is regulated by EZH2 and is important for ovarian clear cell carcinoma cell proliferation

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Epilepsy combined with Wolf-Hirschhorn syndrome: a literature review and description of clinical cases

Chromosomal Microarray Analysis Uncovers Pathogenic Copy Number Variations in Unexplained Neurodevelopmental Disorders and Congenital Anomalies

A Scalable Platform for Producing Recombinant Nucleosomes with Codified Histone Methyltransferase Substrate Preferences.

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Clinical analysis of 33 childhood epilepsy with occipital paroxysms

[Wolf-Hirschhorn syndrome. Description of five cases characterized by means of single nucleotide polymorphism microarrays].

Molecular Mechanisms of Leucine Zipper EF-Hand Containing Transmembrane Protein-1 Function in Health and Disease

Nonossified cervical vertebrae in Wolf-Hirschhorn Syndrome

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P119 Wolf hirschhorn syndrom (a case report)

Prenatal Diagnosis of BACs-on-Beads Assay in 3647 Cases of Amniotic Fluid Cells

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Prenatal diagnosis of Wolf-Hirschhorn syndrome: a case report

Severe congenital bilateral corneal ulceration due to Wolf-Hirschhorn syndrome: a case-report and review of the ophthalmic literature.

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Wolf Hirschhorn Syndrome