Apparently monogenic inheritance of anencephaly and spina bifida in a kindred

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Designing integrated early-phase protocols to reduce substantial modifications, including considerations for patient cohorts - a multi-stakeholder consensus view for a practical approach in Germany.

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New Insight in the Q^{2} Dependence of Proton Generalized Polarizabilities.

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Beam-Recoil Polarization Measurement of π^{0} Electroproduction on the Proton in the Region of the Roper Resonance.

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Observation of Λ(4)H Hyperhydrogen by Decay-Pion Spectroscopy in Electron Scattering.

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Cyclic di-GMP acts as a cell cycle oscillator to drive chromosome replication.

Nature·2015

Cytological and cytogenetical studies on brain tumors. VI. No evidence for a translocation in 22-monosomic meningiomas.

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Climate associated variations in the human serum albumin level.

Humangenetik·1975

A technique for in situ karyotyping of primary amniotic fluid cell cultures.

Humangenetik·1975

Sister chromatid exchanges and chromatid interchanges in bloom's syndrome.

Humangenetik·1975

Trisomy 9p due to paternal translocation, t(9;13) (q13;q12).

Humangenetik·1975

The Bf locus in the HLA region of chromosome 6: linkage and association studies.

Humangenetik·1975

Clinical and Genetic Characterization of Gap Junction Protein β-6 Variants in Non-Syndromic Hearing Loss: A Case Report with Familial Evaluation and In Silico Analyses.

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Functional Characterization of a Novel Variant of the Thyroid Hormone Receptor Alpha in a Child with Developmental Delay and Abnormal Thyroid Function.

Thyroid : official journal of the American Thyroid Association·2026

Nontruncating FRMD7 Variants Are More Penetrant than Truncating Variants in Heterozygous Female Carriers of Infantile Nystagmus.

Ophthalmology science·2026

Zygosity-Dependent Phenotypic Spectrum of RELN-Related Disorders: 10 New Patients and Genotype-Phenotype Correlations Across 48 Kindreds.

Human mutation·2026

Prevalence and penetrance of heritable retinoblastoma in two adult population cohorts: implications for genomic newborn screening.

European journal of human genetics : EJHG·2026

Genetic and pharmacological evidence linking CB1R signaling to hippocampal GABAergic dysfunction in ASD mouse model.

Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics·2026

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Correction: Designing integrated early-phase protocols to reduce substantial modifications, including considerations for patient cohorts - a multi-stakeholder consensus view for a practical approach in Germany.

Designing integrated early-phase protocols to reduce substantial modifications, including considerations for patient cohorts - a multi-stakeholder consensus view for a practical approach in Germany.

New Insight in the Q^{2} Dependence of Proton Generalized Polarizabilities.

Beam-Recoil Polarization Measurement of π^{0} Electroproduction on the Proton in the Region of the Roper Resonance.

Observation of Λ(4)H Hyperhydrogen by Decay-Pion Spectroscopy in Electron Scattering.

Cyclic di-GMP acts as a cell cycle oscillator to drive chromosome replication.

Cytological and cytogenetical studies on brain tumors. VI. No evidence for a translocation in 22-monosomic meningiomas.

Climate associated variations in the human serum albumin level.

A technique for in situ karyotyping of primary amniotic fluid cell cultures.

Sister chromatid exchanges and chromatid interchanges in bloom's syndrome.

Trisomy 9p due to paternal translocation, t(9;13) (q13;q12).

The Bf locus in the HLA region of chromosome 6: linkage and association studies.

Clinical and Genetic Characterization of Gap Junction Protein β-6 Variants in Non-Syndromic Hearing Loss: A Case Report with Familial Evaluation and In Silico Analyses.

Functional Characterization of a Novel Variant of the Thyroid Hormone Receptor Alpha in a Child with Developmental Delay and Abnormal Thyroid Function.

Nontruncating FRMD7 Variants Are More Penetrant than Truncating Variants in Heterozygous Female Carriers of Infantile Nystagmus.

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