Solveig Schulz

Jena, TH 07747, Germany

Last Updated: 09/26/2026

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Found 20 publications

Macrocephaly and Digital Anomalies Expand the Phenotypic Spectrum of PGAP2 Variants in Hyperphosphatasia with Impaired Intellectual Development Syndrome 3 (HPMRS3).

Macrocephaly and Digital Anomalies Expand the Phenotypic Spectrum of PGAP2 Variants in Hyperphosphatasia with Impaired Intellectual Development Syndrome 3 (HPMRS3).

Journal: Human mutation

Published: July 14, 2023

Mutational Spectrum of the ABCA12 Gene and Genotype-Phenotype Correlation in a Cohort of 64 Patients with Autosomal Recessive Congenital Ichthyosis.

Mutational Spectrum of the ABCA12 Gene and Genotype-Phenotype Correlation in a Cohort of 64 Patients with Autosomal Recessive Congenital Ichthyosis.

Journal: Genes

Published: January 18, 2023

Double-Hit Mutations in Bicuspid Aortic Valve and Blunt Traumatic Acute Aortic Dissection.

Double-Hit Mutations in Bicuspid Aortic Valve and Blunt Traumatic Acute Aortic Dissection.

Journal: The Annals of thoracic surgery

Published: January 28, 2020

Factors influencing GPs' perception of specialised palliative homecare (SPHC) importance - results of a cross-sectional study.

Factors influencing GPs' perception of specialised palliative homecare (SPHC) importance - results of a cross-sectional study.

Journal: BMC palliative care

Published: November 04, 2019

A family with limb girdle muscular dystrophy type 1B and multiple exostoses.

A family with limb girdle muscular dystrophy type 1B and multiple exostoses.

Journal: Clinical neuropathology

Published: July 13, 2019

Novel MECP2 Mutation c.1162_1172del; p.Pro388* in Two Patients with Symptoms of Atypical Rett Syndrome.

Novel MECP2 Mutation c.1162_1172del; p.Pro388* in Two Patients with Symptoms of Atypical Rett Syndrome.

Journal: Molecular syndromology

Published: May 21, 2019

Defining and expanding the phenotype of QARS-associated developmental epileptic encephalopathy.

Defining and expanding the phenotype of QARS-associated developmental epileptic encephalopathy.

Journal: Neurology. Genetics

Published: May 01, 2019

Novel Association of a Familial TGFBR1 Mutation in Loeys-Dietz Syndrome with Concomitant Hematologic Malignancy.

Novel Association of a Familial TGFBR1 Mutation in Loeys-Dietz Syndrome with Concomitant Hematologic Malignancy.

Journal: The Korean journal of thoracic and cardiovascular surgery

Published: March 12, 2019

Differentiation of MISSLA and Fanconi anaemia by computer-aided image analysis and presentation of two novel MISSLA siblings.

Differentiation of MISSLA and Fanconi anaemia by computer-aided image analysis and presentation of two novel MISSLA siblings.

Journal: European journal of human genetics : EJHG

Published: November 30, 2018

Buschke-Ollendorff-Syndrom mit einer neuartigen LEMD3-Mutation - Der Fall einer ungewöhnlichen Alopezie.

Buschke-Ollendorff-Syndrom mit einer neuartigen LEMD3-Mutation - Der Fall einer ungewöhnlichen Alopezie.

Journal: Journal der Deutschen Dermatologischen Gesellschaft = Journal of the German Society of Dermatology : JDDG

Published: March 15, 2018

Buschke-Ollendorff syndrome due to a novel LEMD3 mutation - an unusual case of alopecia.

Buschke-Ollendorff syndrome due to a novel LEMD3 mutation - an unusual case of alopecia.

Journal: Journal der Deutschen Dermatologischen Gesellschaft = Journal of the German Society of Dermatology : JDDG

Published: February 22, 2018

Molecular and clinical studies in 8 patients with Temple syndrome.

Molecular and clinical studies in 8 patients with Temple syndrome.

Journal: Clinical genetics

Published: January 09, 2018

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Last Updated: 09/26/2026