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Constitutional SAMD9L mutations cause familial myelodysplastic syndrome and transient monosomy 7

Haematologica (Roma), 2018-03, Vol.103 (3), p.427

2018

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CNS progression during vinblastine or targeted therapies for high‐risk relapsed ALK‐positive anaplastic large cell lymphoma: A case series

Pediatric blood & cancer, 2018-06, Vol.65 (6), p.e27003-n/a

2018

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The receptor tyrosine kinase Ror2 is involved in non‐canonical Wnt5a/JNK signalling pathway

Genes to cells : devoted to molecular & cellular mechanisms, 2003-07, Vol.8 (7), p.645-654

2003

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Primary ciliary dyskinesia associated with normal axoneme ultrastructure is caused by DNAH11 mutations

Human mutation, 2008-02, Vol.29 (2), p.289-298

2008

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Arteries define the position of the thyroid gland during its developmental relocalisation

Development (Cambridge), 2006-10, Vol.133 (19), p.3797-3804

2006

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Ror2 knockout mouse as a model for the developmental pathology of autosomal recessive Robinow syndrome

Developmental dynamics, 2004-02, Vol.229 (2), p.400-410

2004

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An inversion involving the mouse Shh locus results in brachydactyly through dysregulation of Shh expression

The Journal of clinical investigation, 2005-04, Vol.115 (4), p.900-909

2005

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Distinct Mutations in the Receptor Tyrosine Kinase Gene ROR2 Cause Brachydactyly Type B

American journal of human genetics, 2000-10, Vol.67 (4), p.822-831

2000

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Two novel distinct COL1A2 mutations highlight the complexity of genotype–phenotype correlations in osteogenesis imperfecta and related connective tissue disorders

European journal of medical genetics, 2013-12, Vol.56 (12), p.669-673

2013

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Modulation of GDF5/BRI‐b signalling through interaction with the tyrosine kinase receptor Ror2

Genes to cells : devoted to molecular & cellular mechanisms, 2004-12, Vol.9 (12), p.1227-1238

2004

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Brachydactyly type C caused by a homozygous missense mutation in the prodomain of CDMP1

American journal of medical genetics, 2004-02, Vol.124A (4), p.356-363

2004

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Targeted Analysis of Cell-free Circulating Tumor DNA is Suitable for Early Relapse and Actionable Target Detection in Patients with Neuroblastoma

Clinical cancer research, 2022-05, Vol.28 (9), p.1809-1820

2022

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Irinotecan and temozolomide in combination with dasatinib and rapamycin versus irinotecan and temozolomide for patients with relapsed or refractory neuroblastoma (RIST-rNB-2011): a multicentre, open-label, randomised, controlled, phase 2 trial

The lancet oncology, 2024-07, Vol.25 (7), p.922-932

2024

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Genetic analysis of adults heterozygous for ALPL mutations

Journal of bone and mineral metabolism, 2018-11, Vol.36 (6), p.723-733

2018

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Molecular analysis of childhood primitive neuroectodermal tumors defines markers associated with poor outcome

Journal of clinical oncology, 1998-07, Vol.16 (7), p.2478-2485

1998

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The synpolydactyly homolog (spdh) mutation in the mouse – a defect in patterning and growth of limb cartilage elements

Mechanisms of development, 2002-03, Vol.112 (1), p.53-67

2002

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Mapping of the breakpoints on the short arm of chromosome 17 in neoplasms with an i(17q)

Genes chromosomes & cancer, 1999-07, Vol.25 (3), p.230-240

1999

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Entwicklungsstörungen des Nervensystems

Pädiatrie, p.2435-2459

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Uptake of fluorescent plasmalogen analogs by cultured human skin fibroblasts deficient in plasmalogen

Biochimica et biophysica acta, 1990-11, Vol.1029 (1), p.75-84

1990

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Mechanobiologically optimized 3D titanium-mesh scaffolds enhance bone regeneration in critical segmental defects in sheep

Science translational medicine, 2018-01, Vol.10 (423)

2018

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BMPs in bone regeneration: Less is more effective, a paradigm-shift

Cytokine & growth factor reviews, 2016-02, Vol.27, p.141-148

2016

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From Expert Discipline to Common Practice: A Vision and Research Agenda for Extending the Reach of Enterprise Modeling

Business & information systems engineering, 2018-02, Vol.60 (1), p.69-80

2018

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Constitutional SAMD9L mutations cause familial myelodysplastic syndrome and transient monosomy 7

Hepatic sinusoidal obstruction syndrome and short-term application of 6-thioguanine in pediatric acute lymphoblastic leukemia

CNS progression during vinblastine or targeted therapies for high‐risk relapsed ALK‐positive anaplastic large cell lymphoma: A case series

The receptor tyrosine kinase Ror2 is involved in non‐canonical Wnt5a/JNK signalling pathway

Primary ciliary dyskinesia associated with normal axoneme ultrastructure is caused by DNAH11 mutations

Arteries define the position of the thyroid gland during its developmental relocalisation

Ror2 knockout mouse as a model for the developmental pathology of autosomal recessive Robinow syndrome

An inversion involving the mouse Shh locus results in brachydactyly through dysregulation of Shh expression

Distinct Mutations in the Receptor Tyrosine Kinase Gene ROR2 Cause Brachydactyly Type B

Two novel distinct COL1A2 mutations highlight the complexity of genotype–phenotype correlations in osteogenesis imperfecta and related connective tissue disorders

Modulation of GDF5/BRI‐b signalling through interaction with the tyrosine kinase receptor Ror2

Social inequalities in the participation and activity of children and adolescents with leukemia, brain tumors, and sarcomas (SUPATEEN): a protocol for a multicenter longitudinal prospective observational study

Brachydactyly type C caused by a homozygous missense mutation in the prodomain of CDMP1

Targeted Analysis of Cell-free Circulating Tumor DNA is Suitable for Early Relapse and Actionable Target Detection in Patients with Neuroblastoma

Irinotecan and temozolomide in combination with dasatinib and rapamycin versus irinotecan and temozolomide for patients with relapsed or refractory neuroblastoma (RIST-rNB-2011): a multicentre, open-label, randomised, controlled, phase 2 trial

Genetic analysis of adults heterozygous for ALPL mutations

Constitutional SAMD9L Mutations Cause Familial Myelodisplastic Syndrome with Monosomy 7 and Stable Revertant Mosaicism

Molecular analysis of childhood primitive neuroectodermal tumors defines markers associated with poor outcome

The synpolydactyly homolog (spdh) mutation in the mouse – a defect in patterning and growth of limb cartilage elements

Mapping of the breakpoints on the short arm of chromosome 17 in neoplasms with an i(17q)

Entwicklungsstörungen des Nervensystems

Uptake of fluorescent plasmalogen analogs by cultured human skin fibroblasts deficient in plasmalogen

Mechanobiologically optimized 3D titanium-mesh scaffolds enhance bone regeneration in critical segmental defects in sheep

BMPs in bone regeneration: Less is more effective, a paradigm-shift

From Expert Discipline to Common Practice: A Vision and Research Agenda for Extending the Reach of Enterprise Modeling

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