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- Heterozygous FOXN1 Variants Cause Low TRECs and Severe T Cell Lymphopenia, Revealing a Crucial Role of FOXN1 in Supporting Early Thymopoiesis
- Heterozygous Arrhythmogenic Cardiomyopathy-desmoplakin Mutation Carriers Exhibit a Subclinical Cutaneous Phenotype with Cell Membrane Disruption and Lack of Intercellular Adhesion
- Heterozygous deletion of the <i>NSDHL</i> gene in an Appenzeller Mountain Dog with verrucous epidermal keratinocytic nevi
- Heterozygous 21‐hydroxylasedeficiency as a cause of hyperandrogenism
- Heterozygous Variants of the SLC39A4 Gene and Possible Increased Risk for Developing Acrodermatitis Enteropathica with Kaposi’s Varicelliform Eruption
- Heterozygous <i>KRT32</i> variant is responsible for autosomal dominant loose anagen hair syndrome
- Heterozygous <i>COL5A1</i> deletion in a cat with classical Ehlers–Danlos syndrome
- 1123 COPPER LOADING (CuL) STUDIES IN BRINDLED (Br) MOUSE HEMIZYGOTES AND HETEROZYGOTES
- Compound Heterozygous Mutations in the Hairless Gene in Atrichia with Papular Lesions
- Novel Compound Heterozygous Variants in the CDC6 Gene in a Russian Patient with Meier-Gorlin Syndrome
- Case Report: Compound heterozygous variants in LSS and TSPEAR genes causing hypotrichosis type 14 complicated with ectodermal dysplasia type 14
- Low Heterozygosity and Historical Bottleneck Effect Depicted From the Genome Assembly of the Indus River Dolphin (<i>Platanista minor</i>)
- Compound Heterozygous Mutations in <i>Forkhead Box N1</i> (<i>FOXN1</i>) Lead to a Severe Immunodeficiency but Normal Hair and Nail Development in Patients
- A new compound heterozygous frameshift mutation in the type II 3 beta-hydroxysteroid dehydrogenase (3 beta-HSD) gene causes salt-wasting 3 beta-HSD deficiency congenital adrenal hyperplasia.
- Identification of compound heterozygous mutations in <i>AP1B1</i> leading to the newly described recessive keratitis–ichthyosis–deafness (KIDAR) syndrome
- Androgenetic alopecia in heterozygous carriers of a mutation in the human hairless gene
- Identification of a novel heterozygous mutation in the first Japanese case of Marie Unna hereditary hypotrichosis
- Novel compound heterozygous mutations in the<i>desmoplakin</i>gene cause hair shaft abnormalities and culminate in lethal cardiomyopathy
- Androgenetic alopecia in heterozygous carriers of a mutation in the human hairless gene
- A New Heterozygous Variant of c.1225_1227delTTC (p.Phe409del) in Insulin Receptor Gene Associated with Severe Insulin Resistance and Hyperandrogenemia in an Adolescent Female with Type A Severe Insulin Resistance Syndrome
- Case report: Heterozygous mutation in HTRA1 causing typical cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy
- Novel compound heterozygous cadherin 3 mutations in hypotrichosis and juvenile macular dystrophy
- A new heterozygous frameshift variant in keratin 10 resulting in ichthyosis hystrix in a father and daughter
- Patients with Compound Heterozygous Mutations in Forkhead Box N1 have a Severe Immunodeficiency while Maintaining Normal Skin and Hair Development
- Atypical Progeroid Syndrome due to Heterozygous Missense LMNA Mutations
- Olmsted Syndrome Caused by a Heterozygous p.Gly568Val Missense Mutation in <i>TRPV3</i> Gene
- Atrichia with Papular Lesions in a Chinese Family Caused by Novel Compound Heterozygous Mutations and Literature Review
- Nonclassic congenital adrenal hyperplasia and the heterozygote carrier
- Complete defect in PA-PLA1α secretion function leading to autosomal recessive woolly hair and hypotrichosis: insights from a novel compound heterozygous LIPH variant study in a Chinese pedigree
- Type A insulin resistance syndrome due to a novel heterozygous c.3486_3503del (p. Arg1163_Ala1168del) INSR gene mutation in an adolescent girl and her mother