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Double Trouble: Co-Occurrence of Aromatase Deficiency and Non-Classic CAH in Three Siblings

Biallelic mutations in ELFN1 gene associated with developmental and epileptic encephalopathy and joint laxity.

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Papillary Carcinoma of Thyroid Developing in a Dyshormonogenetic Goitre: a Report of Two Cases in One Family

Three Siblings sentence examples within Describe Three Siblings

Cerebral folate transporter deficiency syndrome in three siblings: Why genetic testing for developmental and epileptic encephalopathies should be performed early and include the FOLR1 gene

Further expanding the mutational spectrum of brain abnormalities, neurodegeneration, and dysosteosclerosis: A rare disorder with neurologic regression and skeletal features

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Three Siblings sentence examples within three siblings affected

Ultrawide field imaging to document the progression of gyrate atrophy of the choroid and retina over 5 years

High penetrance of myeloid neoplasia with diverse clinical and cytogenetic features in three siblings with a familial GATA2 deficiency.

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A Novel Variation in the Mitochondrial Complex I Assembly Factor NDUFAF5 Causes Isolated Bilateral Striatal Necrosis in Childhood

Chorea-Acanthocytosis Presenting as Autosomal Recessive Epilepsy in a Family With a Novel VPS13A Mutation

A TOR1AIP1 variant segregating with an early onset limb girdle myasthenia - support for the role of LAP1 in NMJ function and disease.

A Study on Solution Focused Counseling for Children in Online Classes

Clinical and Genetic Characteristics of Splicing Variant in CYP27A1 in an Iranian Family with Cerebrotendinous xanthomatosis

A Novel Homozygous ADCY5 Variant is Associated with a Neurodevelopmental Disorder and Movement Abnormalities

Sibling rank and sibling number in relation to cardiovascular disease and mortality risk: a nationwide cohort study

Familial giant cell arteritis

MCM9 is associated with germline predisposition to early-onset cancer—clinical evidence

Short stature and combined immunodeficiency associated with mutations in RGS10

The Shattering Symmetries between the Imaginary and the Symbolic in Carter’s The Magic Toyshop

A new gene mutation in a family with idiopathic infantile nystagmus

A novel ITGB2 variant with long survival in patients with leukocyte adhesion defect type-I.

Long‐lived Werner syndrome patient autopsy report: The presence of liver cirrhosis

Cerebral Venous Thrombosis Presenting as a Subacute Headache in a Young Man With Undiagnosed Factor V Leiden Mutation

Monoallelic and bi-allelic variants in NCDN cause neurodevelopmental delay, intellectual disability, and epilepsy

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Varying Illness Severity in Patients with MyD88 Deficiency Infected with Coronavirus SARS-CoV-2

A novel missense TGFBI variant p.(Ser591Phe) in a Finnish family with variant lattice corneal dystrophy.

Ten cases of aquagenic syringeal acrokeratoderma revealed during the COVID‐19 outbreak

Skeletal complications in congenital insensitivity to pain and anhidrosis: a problem to reckon with

Determinants of adolescents’ perceptions on access to healthcare services in the Kingdom of Saudi Arabia: Jeeluna national survey findings

Albert J. Schütz (1936–2020)

Clinical and Genetic Characteristics of Splicing Variant in CYP27A1 in an Iranian Family with Cerebrotendinous Xanthomatosis.

Biallelic FRA10AC1 variants cause a neurodevelopmental disorder with growth retardation.

A novel claudin-10 mutation with a unique mechanism in two unrelated families with HELIX syndrome.

Modern diagnostic and therapeutic approaches in familial maculopathy with reference to North Carolina macular dystrophy.

Establishment of a non-integrate iPS cell line CSUASOi002-A, from urine-derived cells of a female patient with macular corneal dystrophy carrying compound heterozygous CHST6 mutations.

New evidence that biallelic loss of function in EEF1B2 gene leads to intellectual disability

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Overlapping retinal phenotypes in a consanguineous family harboring mutations in CRB1 and RS1

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Cognitive characterization of SCAR10 caused by a homozygous c.132dupA mutation in the ANO10 gene

Human iPSC modelling of a familial form of atrial fibrillation reveals a gain of function of If and ICaL in patient-derived cardiomyocytes

Clinical, Histochemical, and Molecular Study of Three Turkish Siblings Diagnosed with H Syndrome, and Literature Review

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Posterior microphthalmos, retinitis pigmentosa, and foveoschisis caused by a mutation in the MFRP gene: a familial study

Evidence for an autosomal recessive pattern of inheritance in Keratitis-ichthyosis-deafness (KID) syndrome: Exome sequencing reveals a novel homozygous GJB2 mutation

Keeping dad safe : an autoethnography of double-duty caregiving in the context of risk as an advanced practice nurse in geriatrics caring for a hospitalized frail older adult parent

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Progressive myelopathy in an adult

A novel splice site variant in ANOS1 gene leads to Kallmann syndrome in three siblings.

Perrault syndrome with neurological features in a compound heterozygote for two TWNK mutations: overlap of TWNK-related recessive disorders

Novel MED12 variant in a multiplex Fragile X syndrome family: dual molecular etiology of two X-linked intellectual disabilities with autism in the same family

Improving post-school living, learning and earning outcomes of youth with disabilities who receive Supplemental Security Income (SSI): Findings and recommendations from six national PROMISE demonstration sites

Early emotional social development of Siblings

Refining the phenotype of the THG1L (p.Val55Ala mutation)‐related mitochondrial autosomal recessive congenital cerebellar ataxia

May ECI biocommentary

Cradling Two Worlds: Tanamera

Identification of pathogenic YY1AP1 splice variants in siblings with Grange syndrome by whole exome sequencing

Seroprevalence of Toxocara Canis in the city of Catania, Italy

Management of Leigh syndrome due to NDUFAF6 variants

Dentinogenesis imperfecta in Osteogenesis imperfecta type XI in South Africa: a genotype–phenotype correlation

Two males with sick sinus syndrome in a family with 0.6 kb deletions involving major domains in MECP2.

Autosomal dominant inheritance in a recently described ZMIZ1‐related neurodevelopmental disorder: Case report of siblings and an affected parent

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Assessment of intrafamilial clinical variability of poikiloderma with neutropenia by a 10-year follow-up of three affected siblings.

Investigating the Time Children with Autistic Spectrum Disorders Spend with Their Typically Developing Siblings

SAT-257 Clinical, Histochemical, and Molecular Study of Three Turkish Siblings Diagnosed with H Syndrome, and Literature Review

Modalities of reading acquisition in three siblings with infantile-onset saccade initiation delay (Cogan congenital ocular motor apraxia): A longitudinal study.

Factors associated with the dietary habits and nutritional status of undergraduate students in a private university in Southern Nigeria

COL4A1 mutations as a potential novel cause of autosomal dominant CAKUT in humans

Multiple supernumerary teeth in a nonsyndromic association: Rare presentation in three siblings

Α Case of Triplets Concordant for Schizophrenia: Psychopathological Considerations

Identification of Genetic Variants in CFAP221 as a Cause of Primary Ciliary Dyskinesia

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Portrait of American Preadolescence’s Personality in Instant Family Film based on Alfred Adler’s Perspective

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Three Siblings 세 형제

Three Siblings 세 형제
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