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Hyperostosis in siblings

South African Medical Journal, 2016-05, Vol.106 (6 Suppl 1), p.S98-S99

2016

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Medium-chain acyl-CoA dehydrogenase deficiency associated with a novel splice mutation in the ACADM gene missed by newborn screening

BMC medical genetics, 2015-07, Vol.16 (1), p.56-56, Article 56

2015

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Viperin; A novel chondrogenic regulator

Osteoarthritis and cartilage, 2015-04, Vol.23, p.A148-A149

2015

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Novel and recurrent TRPV4 mutations and their association with distinct phenotypes within the TRPV4 dysplasia family

Journal of medical genetics, 2010-10, Vol.47 (10), p.704-709

2010

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Transcriptional Regulation of the non-coding snorna RMRP during chondrogenic differentiation; a role for NFкB/P65?

Osteoarthritis and cartilage, 2014-04, Vol.22, p.S161-S161

2014

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Genetische Formen des Kleinwuchses und neue Behandlungskonzepte

Monatsschrift Kinderheilkunde, 2014, Vol.162 (4), p.315-324

2014

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A NOVEL MUTATION ASSOCIATED WITH NEPHROLITIHASIS IN ELLIS-VAN CREVELD SYNDROME

Genetic counseling, 2015, Vol.26 (3), p.377

2015

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FAM111A Mutations Result in Hypoparathyroidism and Impaired Skeletal Development

American journal of human genetics, 2013-06, Vol.92 (6), p.990-995

2013

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RNase MRP is a novel regulator of endochondral ossification

Osteoarthritis and cartilage, 2013-04, Vol.21, p.S12-S13

2013

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Hyperostosis in siblings : the new millennium

South African medical journal, 2016-06, Vol.106 (sup-1), p.98-99

2016

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Hereditäre Skeletterkrankungen unter besonderer Berücksichtigung der Gruppe genetisch entzündlicher/rheumatoider Osteoarthropathien

Aktuelle Rheumatologie, 2016-10, Vol.41 (5), p.377-382

2016

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Trastuzumab therapy vs tetracycline controlled ERBB2 downregulation: influence on tumour development in an ERBB2-dependent mouse tumour model

British journal of cancer, 2008-05, Vol.98 (9), p.1525-1532

2008

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Akute Pankreatitis aufgrund eines hereditären Lipoproteinlipasemangels bei einem Säugling

Monatsschrift Kinderheilkunde, 2014-12, Vol.162 (12), p.1131-1134

2014

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Oncogene-Blocking Therapies: New Insights from Conditional Mouse Tumor Models

Current cancer drug targets, 2006-11, Vol.6 (7), p.603-612

2006

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Microdeletion of Target Sites for Insulator Protein CTCF in a Chromosome 11p15 Imprinting Center in Beckwith-Wiedemann Syndrome and Wilms' Tumor

Proceedings of the National Academy of Sciences - PNAS, 2005-03, Vol.102 (11), p.4085-4090

2005

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TBX15 Mutations Cause Craniofacial Dysmorphism, Hypoplasia of Scapula and Pelvis, and Short Stature in Cousin Syndrome

American journal of human genetics, 2008-11, Vol.83 (5), p.649-655

2008

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Alpha Desynchronization is Modulated by Kinematic and Contextual Properties of the Observed Reach

Journal of vision (Charlottesville, Va.), 2019-09, Vol.19 (10), p.276

2019

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A senescence-like phenotype distinguishes tumor cells that undergo terminal proliferation arrest after exposure to anticancer agents

Cancer research (Chicago, Ill.), 1999-08, Vol.59 (15), p.3761-3767

1999

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FAMILIAL MEDITERRANEAN FEVER AS AN UNUSUAL CAUSE OF ACUTE SCROTUM

The Journal of urology, 2001-04, Vol.165 (4), p.1262-1263

2001

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PReS-FINAL-2275: Improvement of calcinosis cutis with intravenous pamidronate in a 2-year-old girl with progressive widespread skin calcification of unknown origin

Pediatric rheumatology online journal, 2013-12, Vol.11 (S2), p.P265-P265, Article P265

2013

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Effekte von Lovastatin auf kortikaler und Amygdala-abhängiger synaptischer Plastizität im BDNF Val/Met Genotyp

Klinische Neurophysiologie, 2013, Vol.44 (1)

2013

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Mowat-Wilson Syndrome, a rare genetic condition with intestinal and cerebral symptoms

Neuropediatrics, 2012, Vol.43 (2)

2012

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Mutations in the basic core promotor and the precore region of hepatitis b virus and their selection in children with fulminant and chronic hepatitis B

Hepatology (Baltimore, Md.), 1999-04, Vol.29 (4), p.1252-1258

1999

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Microdeletion and IGF2 loss of imprinting in a cascade causing Beckwith-Wiedemann syndrome with Wilms' tumor

Nature genetics, 2005-08, Vol.37 (8), p.785-786

2005

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Premature senescence is a primary fail-safe mechanism of erbb2-driven tumorigenesis in breast carcinoma cells

Cancer research (Chicago, Ill.), 2005-02, Vol.65 (3), p.840-849

2005

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Hyperostosis in siblings

Medium-chain acyl-CoA dehydrogenase deficiency associated with a novel splice mutation in the ACADM gene missed by newborn screening

Viperin; A novel chondrogenic regulator

Novel and recurrent TRPV4 mutations and their association with distinct phenotypes within the TRPV4 dysplasia family

Transcriptional Regulation of the non-coding snorna RMRP during chondrogenic differentiation; a role for NFкB/P65?

Genetische Formen des Kleinwuchses und neue Behandlungskonzepte

A NOVEL MUTATION ASSOCIATED WITH NEPHROLITIHASIS IN ELLIS-VAN CREVELD SYNDROME

FAM111A Mutations Result in Hypoparathyroidism and Impaired Skeletal Development

RNase MRP is a novel regulator of endochondral ossification

Hyperostosis in siblings : the new millennium

Hereditäre Skeletterkrankungen unter besonderer Berücksichtigung der Gruppe genetisch entzündlicher/rheumatoider Osteoarthropathien

Trastuzumab therapy vs tetracycline controlled ERBB2 downregulation: influence on tumour development in an ERBB2-dependent mouse tumour model

Akute Pankreatitis aufgrund eines hereditären Lipoproteinlipasemangels bei einem Säugling

Oncogene-Blocking Therapies: New Insights from Conditional Mouse Tumor Models

Microdeletion of Target Sites for Insulator Protein CTCF in a Chromosome 11p15 Imprinting Center in Beckwith-Wiedemann Syndrome and Wilms' Tumor

TBX15 Mutations Cause Craniofacial Dysmorphism, Hypoplasia of Scapula and Pelvis, and Short Stature in Cousin Syndrome

Alpha Desynchronization is Modulated by Kinematic and Contextual Properties of the Observed Reach

A senescence-like phenotype distinguishes tumor cells that undergo terminal proliferation arrest after exposure to anticancer agents

FAMILIAL MEDITERRANEAN FEVER AS AN UNUSUAL CAUSE OF ACUTE SCROTUM

PReS-FINAL-2275: Improvement of calcinosis cutis with intravenous pamidronate in a 2-year-old girl with progressive widespread skin calcification of unknown origin

Effekte von Lovastatin auf kortikaler und Amygdala-abhängiger synaptischer Plastizität im BDNF Val/Met Genotyp

Mowat-Wilson Syndrome, a rare genetic condition with intestinal and cerebral symptoms

Mutations in the basic core promotor and the precore region of hepatitis b virus and their selection in children with fulminant and chronic hepatitis B

Microdeletion and IGF2 loss of imprinting in a cascade causing Beckwith-Wiedemann syndrome with Wilms' tumor

Premature senescence is a primary fail-safe mechanism of erbb2-driven tumorigenesis in breast carcinoma cells

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