UB Paderborn / Katalog / Suche / in CDI

1 – 25 von 191

Sortiert nach

Rare variant discovery by deep whole-genome sequencing of 1,070 Japanese individuals

Nature communications, 2015-08, Vol.6 (1), p.8018-8018, Article 8018

2015

Volltextzugriff (PDF)

Practical Guidelines for Managing Patients with 22q11.2 Deletion Syndrome

The Journal of pediatrics, 2011-08, Vol.159 (2), p.332-339.e1

2011

Volltextzugriff (PDF)

Genotype-phenotype correlation of Coffin-Siris syndrome caused by mutations in SMARCB1, SMARCA4, SMARCE1, and ARID1A

American journal of medical genetics. Part C, Seminars in medical genetics, 2014-09, Vol.166C (3), p.262-275

2014

Volltextzugriff (PDF)

Limit of antituberculous chemotherapy based on the results of long-term observation

Kekkaku, 1972-12, Vol.47 (12), p.487

Kawame, S

1972

Volltextzugriff (PDF)

Development of fuel failure detection system for a high temperature gas cooled reactor. IV

IEEE transactions on nuclear science, 1990-06, Vol.37 (3), p.1400-1404

1990

Volltextzugriff (PDF)

Symposium 3. The limitation of chemotherapy and the application of surgical treatment in tuberculosis

Kekkaku, 1972-03, Vol.47 (3), p.29

1972

Volltextzugriff (PDF)

Symposium: negative tuberculous cavity

Kekkaku, 1970-09, Vol.45 (9), p.312

1970

Volltextzugriff (PDF)

Late results of pulmonary surgery and artificial pneumothorax studied by respiratory function tests

Kyobu geka. The Japanese journal of thoracic surgery, 1961-06, Vol.14, p.545

1961

Volltextzugriff (PDF)

Development of fuel failure detection system for a high temperature gas cooled reactor (IV)

IEEE Transactions on Nuclear Science (Institute of Electrical and Electronics Engineers); (USA), 1990, Vol.37:3

1990

Volltextzugriff (PDF)

Development of fuel failure detection system for a light temperature gas cooles reactor (IV)

IEEE transactions on nuclear science, 1990, Vol.37 (3), p.1400-1404

1990

Volltextzugriff (PDF)

Studies on the prevention of side-effects by antituberculous drugs with special reference to effectiveness of pantethine (author's transl)

Kekkaku, 1977-11, Vol.52 (11), p.563

1977

Volltextzugriff (PDF)

Weakly nonlinear evolution of pressure waves in a polydisperse bubbly liquid

The Journal of the Acoustical Society of America, 2021-04, Vol.149 (4), p.A30-A30

2021

Volltextzugriff (PDF)

Multiple scales analysis on nonlinear pressure waves of a short wavelength in bubbly liquids with an initial polydispersity

AIP Conference Proceedings, 2022, Vol.2425 (1)

2022

Volltextzugriff (PDF)

Germline mutations in HRAS proto-oncogene cause Costello syndrome

Nature genetics, 2005-10, Vol.37 (10), p.1038-1040

2005

Volltextzugriff (PDF)

Kabuki syndrome: international consensus diagnostic criteria

Journal of medical genetics, 2019-02, Vol.56 (2), p.89

2019

Volltextzugriff (PDF)

Challenges of secondary finding disclosure in genomic medicine in rare diseases: A nation-wide survey of Japanese facilities outsourcing comprehensive genetic testing

Journal of human genetics, 2023-01, Vol.68 (1), p.1-9

2023

Volltextzugriff (PDF)

Gain-of-Function Mutations in RIT1 Cause Noonan Syndrome, a RAS/MAPK Pathway Syndrome

American journal of human genetics, 2013-07, Vol.93 (1), p.173-180

2013

Volltextzugriff (PDF)

Weakly nonlinear propagation of pressure waves in bubbly liquids with a polydispersity based on two-fluid model equations

International journal of multiphase flow, 2023-07, Vol.164, p.104369, Article 104369

2023

Volltextzugriff (PDF)

Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome

Nature genetics, 2012-04, Vol.44 (4), p.376-378

2012

Volltextzugriff (PDF)

The effects of simple graphical and mental visualization of lung sounds in teaching lung auscultation during clinical clerkship: A preliminary study

PloS one, 2023-03, Vol.18 (3), p.e0282337-e0282337

2023

Volltextzugriff (PDF)

Role of Fibrin Monomer Complex in Coronavirus Disease 2019 for Venous Thromboembolism and the Prognosis

Internal Medicine, 2023/10/15, Vol.62(20), pp.2941-2948

2023

Volltextzugriff (PDF)

A comparison of genome cohort participants' genetic knowledge and preferences to receive genetic results before and after a genetics workshop

Journal of human genetics, 2018-11, Vol.63 (11), p.1139-1147

2018

Volltextzugriff (PDF)

Validity of congenital malformation diagnoses in healthcare claims from a university hospital in Japan

Pharmacoepidemiology and drug safety, 2021-07, Vol.30 (7), p.975-978

2021

Volltextzugriff (PDF)

Fabrication and characterization of spin injector using a high-quality B2-ordered-Co2FeSi0.5Al0.5/MgO/Si(100) tunnel contact

Journal of applied physics, 2015-05, Vol.117 (17)

2015

Volltextzugriff (PDF)

Difficulties in disclosing secondary findings by facilities performing comprehensive germline genetic testing for rare diseases in Japan

Congenital anomalies, 2024-05, Vol.64 (3), p.116-124

2024

Volltextzugriff (PDF)

1 – 25 von 191

Suche als RSS-Feed

Suchergebnisse filtern

Filter anzeigen

Nur zeigen

Geprüft (Peer-Review)
(120)
Mit Volltextzugriff
(144)

Publikationsform

Sprache

Englisch
(143)
Japanisch
(92)

Erscheinungsjahr

n.n

Thema

15 weitere anzeigen...

Weniger anzeigen...

Menü

Weitere Dienste

Einstellungen

Rare variant discovery by deep whole-genome sequencing of 1,070 Japanese individuals

Practical Guidelines for Managing Patients with 22q11.2 Deletion Syndrome

Genotype-phenotype correlation of Coffin-Siris syndrome caused by mutations in SMARCB1, SMARCA4, SMARCE1, and ARID1A

Limit of antituberculous chemotherapy based on the results of long-term observation

Development of fuel failure detection system for a high temperature gas cooled reactor. IV

Symposium 3. The limitation of chemotherapy and the application of surgical treatment in tuberculosis

Symposium: negative tuberculous cavity

Late results of pulmonary surgery and artificial pneumothorax studied by respiratory function tests

Development of fuel failure detection system for a high temperature gas cooled reactor (IV)

Development of fuel failure detection system for a light temperature gas cooles reactor (IV)

Studies on the prevention of side-effects by antituberculous drugs with special reference to effectiveness of pantethine (author's transl)

Weakly nonlinear evolution of pressure waves in a polydisperse bubbly liquid

Multiple scales analysis on nonlinear pressure waves of a short wavelength in bubbly liquids with an initial polydispersity

Germline mutations in HRAS proto-oncogene cause Costello syndrome

Kabuki syndrome: international consensus diagnostic criteria

Challenges of secondary finding disclosure in genomic medicine in rare diseases: A nation-wide survey of Japanese facilities outsourcing comprehensive genetic testing

Gain-of-Function Mutations in RIT1 Cause Noonan Syndrome, a RAS/MAPK Pathway Syndrome

Weakly nonlinear propagation of pressure waves in bubbly liquids with a polydispersity based on two-fluid model equations

Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome

The effects of simple graphical and mental visualization of lung sounds in teaching lung auscultation during clinical clerkship: A preliminary study

Role of Fibrin Monomer Complex in Coronavirus Disease 2019 for Venous Thromboembolism and the Prognosis

A comparison of genome cohort participants' genetic knowledge and preferences to receive genetic results before and after a genetics workshop

Validity of congenital malformation diagnoses in healthcare claims from a university hospital in Japan

Fabrication and characterization of spin injector using a high-quality B2-ordered-Co2FeSi0.5Al0.5/MgO/Si(100) tunnel contact

Difficulties in disclosing secondary findings by facilities performing comprehensive germline genetic testing for rare diseases in Japan

Suchergebnisse filtern