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Progression of Danon disease with medical imaging: two case reports

A Rare Chinese Family with Genetic and Clinical Expression of Danon Disease: Case Reports

Experience with the targeted next-generation sequencing in the diagnosis of hereditary hypophosphatemic rickets

Two De Novo Mosaic Variants Within the Same Site of PHEX Gene in a Girl with X-Linked Hypophosphatemic Rickets.

Гипофосфатемический рахит у детей — клинические и генетические аспекты, подходы к терапии

Rickets, elevated fibroblast growth factor-23 and mild anemia: Answers

Genetic basis of hereditary hypophosphataemic rickets and phenotype presentation in children and adults.

CDKL5 deficiency disorder in males: Five new variants and review of the literature.

Brain-Derived Neurotrophic Factor Secreting Human Mesenchymal Stem Cells Improve Outcomes in Rett Syndrome Mouse Models

Interferon-β Therapy in a Patient with Incontinentia Pigmenti and Autoantibodies against Type I IFNs Infected with SARS-CoV-2

Allelic and dosage effects of NHS in X-linked cataract and Nance–Horan syndrome: a family study and literature review

Family of Three Generations with Incontinentia Pigmenti

The 3-beta-hydroxysteroid-Delta(8), Delta(7)-isomerase EBP inhibits cholesterylation of Smoothened.

Orofacial-digital syndrome type 1 with patchy scalp alopecia in an Indian child

Ivory poaching and the rapid evolution of tusklessness in African elephants

Adult Onset Isolated Hypogonadotropic Hypogonadism- a Cause of Secondary Amenorrhea

A Report of Incontinentia Pigmenti in an 11-year-old Girl

Recommendations and guidance on the diagnosis and management of Danon disease

Physical exercise mitigates neuropathic changes in an animal model for Charcot-Marie-Tooth disease 1X

Induced pluripotent stem cells for modeling of Rett Syndrome

The predictive diagnostic value of the cytological findings in incontinentia pigmenti: a preliminary report

Early-Onset Atrial Fibrillation and the Prevalence of Rare Variants in Cardiomyopathy and Arrhythmia Genes.

Case Report: Prenatal Diagnosis for a Rett Syndrome Family Caused by a Novel MECP2 Deletion With Heteroduplexes of PCR Product

The potential role of propranolol in incontinentia pigmenti

Novel WTX nonsense mutation in a family diagnosed with osteopathia striata with cranial sclerosis

Consensus clinical management guideline for beta-propeller protein-associated neurodegeneration.

A pathogenic PHEX variant (c.1483-1G>C) in a Korean patient with X-linked hypophosphatemic rickets

The Anesthetic Challenges of Caring for a Pediatric Patient With Incontinentia Pigmenti: A Case Report

Pustular Skin Lesions in an Adult Female Patient with X-linked Dominant Chondrodysplasia Punctata with a Novel Emopamil Binding Protein Mutation: A Rare Skin Manifestation.

Left Ventricular Hypertrophy in Patients with X-Linked Hypophosphataemia.

Болезнь Данона у детей: взгляд детского кардиолога

Wilms tumour occurring in a patient with osteopathia striata with cranial sclerosis: A still unsolved biological question

Fasciculoventricular and Atrioventricular Accessory Pathways in Patients with Danon Disease and Preexcitation: A Multicenter Experience.

Hepatic Adenomatosis in Aicardi Syndrome: a Clinical Report and Review of the Literature

Danon disease: a case report and literature review

Substantial acetylcholine reduction in multiple brain regions of Mecp2-deficient female rats and associated behavioral abnormalities

Linear Skin Defects with Multiple Congenital Anomalies (LSDMCA): An Unconventional Mitochondrial Disorder

Psychosis and Catatonia in Fragile X Syndrome

A review of Fabrys disease- pathophysiology, clinical presentation and treatments

генетическая эпилепсия, вызванная мутациями в гене CDKL5, как пример эпилептической энцефалопатии и энцефалопатии развития: обзор литературы и собственные наблюдения

Kabuki Syndrome—Clinical Review with Molecular Aspects

Determination of the membrane topology of PORCN, an O-acyl transferase that modifies Wnt signalling proteins

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X Linked Dominant X 연결된 도미넌트

X Linked Dominant X 연결된 도미넌트
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