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Lethal osteogenesis imperfecta type XX caused by compound heterozygous frameshift mutations in MESD

Bone Reports, 2021-04, Vol.14, p.100851, Article 100851

2021

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Diffusion-weighted magnetic resonance imaging for monitoring diffusion changes in rectal carcinoma during combined, preoperative chemoradiation: preliminary results of a prospective study

European journal of radiology, 2003-03, Vol.45 (3), p.214-222

2003

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The rectogenital septum: Morphology, function, and clinical relevance

Diseases of the colon & rectum, 2004-02, Vol.47 (2), p.131-140

2004

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Compound Heterozygous Frameshift Mutations in MESD Cause a Lethal Syndrome Suggestive of Osteogenesis Imperfecta Type XX

Journal of bone and mineral research, 2021-06, Vol.36 (6), p.1077-1087

2021

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Prevention of Decompression Sickness by Novel Artificial Oxygen Carriers

Medicine and science in sports and exercise, 2020-10, Vol.52 (10), p.2127-2135

2020

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Intravital lectin perfusion analysis of vascular permeability in human micro- and macro- blood vessels

Histochemistry and cell biology, 2001-10, Vol.116 (4), p.349-359

2001

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Fast Achievement Of a First Metabolic Complete Remission In a Lung Transtplanted Patient With Multiple Comorbidities and a CD30 Positive Anaplastic Large Cell Post-Transplant Lymphoproliferative Disorder (T-PTLD/ALCL) By Treatment With Brentuximab Vedotin Monotherapy

Blood, 2013-11, Vol.122 (21), p.5124-5124

2013

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Connexin 26 in human fetal development of the inner ear

Hearing research, 2001-10, Vol.160 (1), p.15-21

2001

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Vascular permeability and hyperpermeability in a murine adenocarcinoma after fractionated radiotherapy: an ultrastructural tracer study

Histochemistry and cell biology, 2000-10, Vol.114 (4), p.259-275

2000

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NEOADJUVANT GONADOTROPIN-RELEASING HORMONE THERAPY BEFORE SURGERY MAY IMPROVE THE FERTILITY INDEX IN UNDESCENDED TESTES: A PROSPECTIVE RANDOMIZED TRIAL

The Journal of urology, 2005-03, Vol.173 (3), p.974-977

2005

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The superior rectal artery and its branching pattern with regard to its clinical influence on ligation techniques for internal hemorrhoids

The American journal of surgery, 2004, Vol.187 (1), p.102-108

2004

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Steroid‐ and ATG‐Resistant Rejection After Double Forearm Transplantation Responds to Campath‐1H

American journal of transplantation, 2004-08, Vol.4 (8), p.1372-1374

2004

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High expression of the chemokine receptor CXCR4 predicts extramedullary organ infiltration in childhood acute lymphoblastic leukaemia

British journal of haematology, 2001-12, Vol.115 (3), p.545-553

2001

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Refinement of the GINGF3 locus for hereditary gingival fibromatosis

European journal of pediatrics, 2010-03, Vol.169 (3), p.327-332

2010

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Tumor microcirculation evaluated by dynamic magnetic resonance imaging predicts therapy outcome for primary rectal carcinoma

Cancer research (Chicago, Ill.), 2001-03, Vol.61 (6), p.2513-2516

2001

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Epstein—Barr Virus-Negative Boys With Non-Hodgkin Lymphoma Are Mutated in the Sh2D1A Gene, as Are Patients With X-Linked Lymphoproliferative Disease (XLP)

Human molecular genetics, 1999-12, Vol.8 (13), p.2407-2413

1999

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Bone bruise of the knee Histology and cryosections in 5 cases

Acta orthopaedica, 1998, Vol.69 (3), p.291-294

1998

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"Denervation" of autonomous nervous system in idiopathic pulmonary arterial hypertension by low-dose radiation: a case report with an unexpected outcome

Therapeutics and clinical risk management, 2014-01, Vol.10 (default), p.207-215

2014

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"Occupational backache" - surface electromyography demonstrates the advantage of an ergonomic versus a standard microscope workstation

European journal of applied physiology, 2002-04, Vol.86 (6), p.492-497

2002

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Joubert-like syndrome unlinked to known candidate loci

The Journal of pediatrics, 2004-02, Vol.144 (2), p.264-269

2004

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Amyloidoma of the clavicle

American journal of roentgenology (1976), 2003-09, Vol.181 (3), p.771-773

2003

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Underestimated health hazard: proposal for an ergonomic microscope workstation

The Lancet (British edition), 1999-11, Vol.354 (9191), p.1701-1702

1999

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186: Neoadjuvant Gonadotropin-Releasing Hormone Therapy Before Orchiopexy Improves the Fertility Index in Concomitant Testicular Biopsies

The Journal of urology, 2004-04, Vol.171 (4), p.49-49

2004

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Necrotizing sialometaplasia in two patients with bulimia and chronic vomiting

International journal of oral and maxillofacial surgery, 1998-12, Vol.27 (6), p.463-465

1998

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Galactocele in a young male patient

Plastic and reconstructive surgery (1963), 2003-07, Vol.112 (1), p.186-188

2003

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Lethal osteogenesis imperfecta type XX caused by compound heterozygous frameshift mutations in MESD

Diffusion-weighted magnetic resonance imaging for monitoring diffusion changes in rectal carcinoma during combined, preoperative chemoradiation: preliminary results of a prospective study

The rectogenital septum: Morphology, function, and clinical relevance

Compound Heterozygous Frameshift Mutations in MESD Cause a Lethal Syndrome Suggestive of Osteogenesis Imperfecta Type XX

Prevention of Decompression Sickness by Novel Artificial Oxygen Carriers

Intravital lectin perfusion analysis of vascular permeability in human micro- and macro- blood vessels

Fast Achievement Of a First Metabolic Complete Remission In a Lung Transtplanted Patient With Multiple Comorbidities and a CD30 Positive Anaplastic Large Cell Post-Transplant Lymphoproliferative Disorder (T-PTLD/ALCL) By Treatment With Brentuximab Vedotin Monotherapy

Connexin 26 in human fetal development of the inner ear

Vascular permeability and hyperpermeability in a murine adenocarcinoma after fractionated radiotherapy: an ultrastructural tracer study

NEOADJUVANT GONADOTROPIN-RELEASING HORMONE THERAPY BEFORE SURGERY MAY IMPROVE THE FERTILITY INDEX IN UNDESCENDED TESTES: A PROSPECTIVE RANDOMIZED TRIAL

The superior rectal artery and its branching pattern with regard to its clinical influence on ligation techniques for internal hemorrhoids

Steroid‐ and ATG‐Resistant Rejection After Double Forearm Transplantation Responds to Campath‐1H

High expression of the chemokine receptor CXCR4 predicts extramedullary organ infiltration in childhood acute lymphoblastic leukaemia

Refinement of the GINGF3 locus for hereditary gingival fibromatosis

Tumor microcirculation evaluated by dynamic magnetic resonance imaging predicts therapy outcome for primary rectal carcinoma

Epstein—Barr Virus-Negative Boys With Non-Hodgkin Lymphoma Are Mutated in the Sh2D1A Gene, as Are Patients With X-Linked Lymphoproliferative Disease (XLP)

Bone bruise of the knee Histology and cryosections in 5 cases

"Denervation" of autonomous nervous system in idiopathic pulmonary arterial hypertension by low-dose radiation: a case report with an unexpected outcome

"Occupational backache" - surface electromyography demonstrates the advantage of an ergonomic versus a standard microscope workstation

Joubert-like syndrome unlinked to known candidate loci

Amyloidoma of the clavicle

Underestimated health hazard: proposal for an ergonomic microscope workstation

186: Neoadjuvant Gonadotropin-Releasing Hormone Therapy Before Orchiopexy Improves the Fertility Index in Concomitant Testicular Biopsies

Necrotizing sialometaplasia in two patients with bulimia and chronic vomiting

Galactocele in a young male patient

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