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Distinct CDH3 mutations cause ectodermal dysplasia, ectrodactyly, macular dystrophy (EEM syndrome)

Journal of medical genetics, 2005-04, Vol.42 (4), p.292-298

2005

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A homozygous BMPR1B mutation causes a new subtype of acromesomelic chondrodysplasia with genital anomalies

Journal of medical genetics, 2005-04, Vol.42 (4), p.314-317

2005

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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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Acropectorovertebral dysgenesis (F syndrome) maps to chromosome 2q36

Journal of medical genetics, 2004-03, Vol.41 (3), p.213-218

2004

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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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Genetics of congenital hand anomalies

Handchirurgie, Mikrochirurgie, plastische Chirurgie, 2004-04, Vol.36 (2-3), p.85

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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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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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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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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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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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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In vitro evolution predicts emerging SARS-CoV-2 mutations with high affinity for ACE2 and cross-species binding

PLoS pathogens, 2022-07, Vol.18 (7), p.e1010733

2022

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Insights into the activation mechanism of class I HDAC complexes by inositol phosphates

Nature communications, 2016-04, Vol.7 (1), p.11262-11262, Article 11262

2016

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Gremlin 1 Identifies a Skeletal Stem Cell with Bone, Cartilage, and Reticular Stromal Potential

Cell, 2015-01, Vol.160 (1-2), p.269-284

2015

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NLR Family Pyrin Domain‐Containing 3 Inflammasome Activation in Hepatic Stellate Cells Induces Liver Fibrosis in Mice

Hepatology (Baltimore, Md.), 2019-02, Vol.69 (2), p.845-859

2019

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A molecular single-cell lung atlas of lethal COVID-19

Nature (London), 2021-07, Vol.595 (7865), p.114-119

2021

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Assessing resilience in long-term ecological data sets

Ecological indicators, 2016-06, Vol.65, p.10-43

2016

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Unraveling the genetic architecture of major depressive disorder: merits and pitfalls of the approaches used in genome-wide association studies

Psychological medicine, 2019-12, Vol.49 (16), p.2646-2656

2019

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Constitutional SAMD9L mutations cause familial myelodysplastic syndrome and transient monosomy 7

Haematologica (Roma), 2018-03, Vol.103 (3), p.427-437

2018

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Slowing of acoustic waves in electrorheological and string-fluid complex plasmas

New journal of physics, 2020-08, Vol.22 (8), p.83079

2020

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Mobile Learning projects - a critical analysis of the state of the art

Journal of computer assisted learning, 2009-08, Vol.25 (4), p.307-331

2009

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Distinct CDH3 mutations cause ectodermal dysplasia, ectrodactyly, macular dystrophy (EEM syndrome)

A homozygous BMPR1B mutation causes a new subtype of acromesomelic chondrodysplasia with genital anomalies

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

Acropectorovertebral dysgenesis (F syndrome) maps to chromosome 2q36

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

Genetics of congenital hand anomalies

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

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

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

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

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

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

In vitro evolution predicts emerging SARS-CoV-2 mutations with high affinity for ACE2 and cross-species binding

Insights into the activation mechanism of class I HDAC complexes by inositol phosphates

Gremlin 1 Identifies a Skeletal Stem Cell with Bone, Cartilage, and Reticular Stromal Potential

Opposing roles of hepatic stellate cell subpopulations in hepatocarcinogenesis

NLR Family Pyrin Domain‐Containing 3 Inflammasome Activation in Hepatic Stellate Cells Induces Liver Fibrosis in Mice

A molecular single-cell lung atlas of lethal COVID-19

Assessing resilience in long-term ecological data sets

Unraveling the genetic architecture of major depressive disorder: merits and pitfalls of the approaches used in genome-wide association studies

Constitutional SAMD9L mutations cause familial myelodysplastic syndrome and transient monosomy 7

Slowing of acoustic waves in electrorheological and string-fluid complex plasmas

Mobile Learning projects - a critical analysis of the state of the art

Effect of rifaximin on infections, acute‐on‐chronic liver failure and mortality in alcoholic hepatitis: A pilot study (RIFA‐AH)

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