S. Schulz

发表

Microcephaly, short stature, and limb abnormality disorder due to novel autosomal biallelic DONSON mutations in two German siblings

D. Schindler, U. Schneider, B. Romeike, 2018, European Journal of Human Genetics.

Clinical and mutational spectrum of Mowat-Wilson syndrome.

I. Krantz, K. Devriendt, H. Firth, 2005, European journal of medical genetics.

Double-hit mutations in bicuspid aortic valve and blunt traumatic acute aortic dissection.

T. Kuntze, E. Girdauskas, T. Owais, 2020, The Annals of thoracic surgery.

Genetic abnormalities in bicuspid aortic valve root phenotype: preliminary results†

T. Kuntze, H. Reichenspurner, I. Kurth, 2017, European journal of cardio-thoracic surgery : official journal of the European Association for Cardio-thoracic Surgery.

Transforming growth factor-beta receptor type II mutation in a patient with bicuspid aortic valve disease and intraoperative aortic dissection.

T. Kuntze, M. Borger, E. Girdauskas, 2011, The Annals of thoracic surgery.

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

T. Kuntze, E. Girdauskas, T. Owais, 2019, The Korean journal of thoracic and cardiovascular surgery.

Gastroparese bei Noonan-Syndrom

A. Stallmach, F. Gühne, S. Schulz, 2017, Zeitschrift für Gastroenterologie.

Unexpected manifestation of naevoid basal cell carcinoma (Gorlin) syndrome with a novel mutation in the PTCH1 gene in a female patient with long‐lasting pemphigus vulgaris

P. Elsner, U. Hipler, J. Kohlhase, 2016, Journal of the European Academy of Dermatology and Venereology : JEADV.

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

D. Horn, S. Mundlos, J. Pantel, 2019, European Journal of Human Genetics.

Next-generation sequencing in X-linked intellectual disability

P. Bauer, C. Evers, C. Schroeder, 2015, European Journal of Human Genetics.

Molecular and clinical studies in 8 patients with Temple syndrome

D. Mitter, T. Eggermann, B. Albrecht, 2018, Clinical genetics.

Greig cephalopolysyndactyly (GCPS) contiguous gene syndrome in a boy with a 14 Mb deletion in region 7p13-14 caused by a paternal balanced insertion (5; 7)

P. Wieacker, M. Volleth, I. Wieland, 2008, The application of clinical genetics.

Prenatal diagnosis of hypoplastic left heart syndrome associated with Noonan Syndrome and de novo RAF1 mutation

U. Schneider, C. Kraus, R. Fröber, 2012, Prenatal diagnosis.

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

D. Mitter, G. Rubboli, R. Møller, 2019, Neurology. Genetics.

Prenatal diagnosis of Roberts syndrome and detection of an ESCO2 frameshift mutation in a Pakistani family

P. Wieacker, K. Shirneshan, S. Schulz, 2008, Prenatal diagnosis.

Increased frequency of cystic fibrosis transmembrane conductance regulator gene mutations in infertile males.

S. Kropf, P. Muschke, S. Jakubiczka, 2006, Fertility and sterility.

Buschke‐Ollendorff syndrome due to a novel LEMD3 mutation – an unusual case of alopecia

P. Elsner, S. Schulz, S. Schliemann, 2018, Journal der Deutschen Dermatologischen Gesellschaft = Journal of the German Society of Dermatology : JDDG.

Microcephaly, short stature, and limb abnormality disorder due to novel autosomal biallelic DONSON mutations in two German siblings

D. Schindler, U. Schneider, B. Romeike, 2018, European Journal of Human Genetics.

Disturbed Neuronal ER-Golgi Sorting of Unassembled Glycine Receptors Suggests Altered Subcellular Processing Is a Cause of Human Hyperekplexia

C. Becker, K. Brockmann, B. Lynch, 2015, The Journal of Neuroscience.

Pseudotrisomy 13: Clinical Findings and Genetic Implications

C. Mawrin, P. Wieacker, T. Kalinski, 2005, Fetal Diagnosis and Therapy.

Disturbed Neuronal ER-Golgi Sorting of Unassembled Glycine Receptors Suggests Altered Subcellular Processing Is a Cause of Human Hyperekplexia

C. Becker, K. Brockmann, B. Lynch, 2015, Journal of Neuroscience.