H. Gabriel

发表

First IKBKG gene mutation study in Serbian incontinentia pigmenti patients.

M. Genčík, S. Minić, D. Trpinac, 2013, Srpski arhiv za celokupno lekarstvo.

4.7 Mb deletion encompassing TGFB2 associated with features of Loeys–Dietz syndrome and osteoporosis in adulthood

G. Borck, R. Brenner, H. Gaspar, 2017, American journal of medical genetics. Part A.

Clinical utility gene card for: Haemochromatosis [HFE]

M. Stuhrmann, S. Keeney, H. Gabriel, 2010, European Journal of Human Genetics.

The Cohesin loading factor NIPBL recruits histone deacetylases to mediate local chromatin modifications

M. Albrecht, G. Gillessen‐kaesbach, F. Kaiser, 2008, Nucleic acids research.

Germline PTPN11 and somatic PIK3CA variant in a boy with megalencephaly-capillary malformation syndrome (MCAP) - pure coincidence?

M. Schubach, C. Spaich, M. Zenker, 2014, European Journal of Human Genetics.

Mutation screening of the EYA1, SIX1, and SIX5 genes in a large cohort of patients harboring branchio‐oto‐renal syndrome calls into question the pathogenic role of SIX5 mutations

R. Salomon, C. Antignac, E. Colin, 2011, Human mutation.

De novo missense variants in RAC3 cause a novel neurodevelopmental syndrome

S. Scherer, C. Marshall, S. Wodak, 2018, Genetics in Medicine.

PEDIA: prioritization of exome data by image analysis

Borut Peterlin, Sebastian Köhler, Na Zhu, 2018, Genetics in Medicine.

Dental and oral anomalies in incontinentia pigmenti: a systematic review

Heinz Gabriel, M. Genčík, Snežana Minić, 2012, Clinical Oral Investigations.

The cohesin protein NIPBL recruits histone deacetylases to mediate local chromatin modifications

M. Albrecht, G. Gillessen‐kaesbach, F. Kaiser, 2009 .

De Novo and Bi-allelic Pathogenic Variants in NARS1 Cause Neurodevelopmental Delay Due to Toxic Gain-of-Function and Partial Loss-of-Function Effects.

R. Pfundt, C. Cytrynbaum, J. Vincent, 2020, American journal of human genetics.

Whole Exome Sequencing Revealed a Candidate Gene for Finkelstein-Seidlmayer Disease

M. Luedeke, C. Mainetti, S. Biskup, 2019, American Journal of Pediatrics.

Unique occurrence of Brachmann-de lange syndrome in a fetus whose mother presented with a diffuse large B-cell lymphoma

C. Sergi, G. Mikuz, G. Tariverdian, 2008, Pathology & Oncology Research.

A novel mutation (c.64_65delGGinsAACC [p.G21fsX66]) in the GTP cyclohydrolase 1 gene that causes Segawa disease

A. Storch, G. Hoffmann, T. Opladen, 2008, Journal of Neurology, Neurosurgery, and Psychiatry.

Dental and oral anomalies in incontinentia pigmenti: a systematic review

M. Genčík, S. Minić, D. Trpinac, 2012, Clinical Oral Investigations.

Trio exome sequencing is highly relevant in prenatal diagnostics

M. Wüstemann, S. Biskup, E. Schwaibold, 2021, Prenatal diagnosis.

De novo missense variants in RAC3 cause a novel neurodevelopmental syndrome

S. Scherer, C. Marshall, S. Wodak, 2018, Genetics in Medicine.

PEDIA: prioritization of exome data by image analysis

M. Nöthen, O. Bar, S. Köhler, 2018, Genetics in Medicine.