UB Paderborn / Katalog / Suche / in CDI

1 – 25 von 1.266

Sortiert nach

A questionnaire-based survey of medical conditions in adults with Prader-Willi syndrome in Japan: implications for transitional care

Endocrine Journal, 2023, Vol.70(5), pp.519-528

2023

Volltextzugriff (PDF)

Subtle Cardiovascular Abnormalities in Prader-Willi Syndrome Might Begin in Young Adulthood

Internal Medicine, 2021/11/01, Vol.60(21), pp.3377-3384

2021

Volltextzugriff (PDF)

European ceramic technology in the Far East: enamels and pigments in Japanese art from the 16th to the 20th century and their reverse influence on China

Heritage science, 2020-05, Vol.8 (1), p.1-17, Article 48

2020

Volltextzugriff (PDF)

Maternal age effect on the development of Prader-Willi syndrome resulting from upd(15)mat through meiosis 1 errors

Journal of human genetics, 2011-08, Vol.56 (8), p.566-571

2011

Volltextzugriff (PDF)

Perinatal and neonatal characteristics of Prader–Willi syndrome in Japan

Pediatrics international, 2023-01, Vol.65 (1), p.e15540-n/a

2023

Volltextzugriff (PDF)

Contribution of gene mutations to Silver-Russell syndrome phenotype: multigene sequencing analysis in 92 etiology-unknown patients

Clinical epigenetics, 2020-06, Vol.12 (1), p.86-86, Article 86

2020

Volltextzugriff (PDF)

Primary hyperparathyroidism in a child with abdominal pain and hematuria

Clinical Pediatric Endocrinology, 2021, Vol.30(2), pp.111-113

2021

Volltextzugriff (PDF)

Characteristic findings of skeletal muscle MRI in caveolinopathies

Neuromuscular disorders : NMD, 2018-10, Vol.28 (10), p.857-862

2018

Volltextzugriff (PDF)

Genome-wide methylation analysis in Silver-Russell syndrome, Temple syndrome, and Prader-Willi syndrome

Clinical epigenetics, 2020-10, Vol.12 (1), p.159-159, Article 159

2020

Volltextzugriff (PDF)

Growth hormone treatment for osteoporosis in patients with scoliosis of Prader-Willi syndrome

Journal of orthopaedic science : official journal of the Japanese Orthopaedic Association, 2014-11, Vol.19 (6), p.877-882

2014

Volltextzugriff (PDF)

The characteristics of scoliosis in Prader–Willi syndrome (PWS): analysis of 58 scoliosis patients with PWS

Journal of orthopaedic science : official journal of the Japanese Orthopaedic Association, 2015-01, Vol.20 (1), p.17-22

2015

Volltextzugriff (PDF)

Primary hyperparathyroidism in a child with abdominal pain and hematuria

Clinical Pediatric Endocrinology, 2021-04, Vol.30 (2), p.111-113

2021

Volltextzugriff (PDF)

Additional patients with 4q deletion: Severe growth delay and polycystic kidney disease associated with 4q21q22 loss

Pediatrics international, 2015-10, Vol.57 (5), p.880-883

2015

Volltextzugriff (PDF)

Differing phenotypes of Moyamoya disease in a familial case involving heterozygous c.14429G > A variant in RNF213

Pediatrics international, 2015-08, Vol.57 (4), p.798-801

2015

Volltextzugriff (PDF)

Epilepsy and West syndrome in neonates with hypoxic-ischemic encephalopathy

Pediatrics international, 2014-06, Vol.56 (3), p.369-372

2014

Volltextzugriff (PDF)

The early porcelain kilns of Arita: Identification of raw materials and their use from the 17th to the 19th century

Open ceramics, 2022-03, Vol.9, p.100217, Article 100217

2022

Volltextzugriff (PDF)

Autistic, Aberrant, and Food-Related Behaviors in Adolescents and Young Adults with Prader-Willi Syndrome: The Effects of Age and Genotype

Behavioural neurology, 2017-01, Vol.2017, p.4615451-10

2017

Volltextzugriff (PDF)

An autopsy case of lymphomatosis cerebri showing pathological changes of intravascular large B‐cell lymphoma in visceral organs

Neuropathology, 2011-12, Vol.31 (6), p.612-619

2011

Volltextzugriff (PDF)

Idiopathic hypereosinophilic syndrome complicated by central sinovenous thrombosis

Brain & development (Tokyo. 1979), 2007-04, Vol.29 (3), p.182-184

2007

Volltextzugriff (PDF)

Gender Differences in the Behavioral Symptom Severity of Prader-Willi Syndrome

Behavioural neurology, 2015-01, Vol.2015, p.294127-8

2015

Volltextzugriff (PDF)

Characterization of Diabetes Mellitus in Japanese Prader-Willi Syndrome

Clinical Pediatric Endocrinology, 2011, Vol.20(2), pp.33-38

2011

Volltextzugriff (PDF)

Birth seasonality in Prader-Willi syndrome resulting from chromosome 15 microdeletion

American journal of medical genetics. Part A, 2013-06, Vol.161A (6), p.1495-1497

2013

Volltextzugriff (PDF)

An autopsied case of panencephalopathic‐type Creutzfeldt‐Jakob disease with mutation in the prion protein gene at codon 232 and type 1 prion protein

Neuropathology, 2009-12, Vol.29 (6), p.727-734

2009

Volltextzugriff (PDF)

Functional analysis of ryanodine receptor type 1 p.R2508C mutation in exon 47

Journal of anesthesia, 2009, Vol.23 (3), p.341-346

2009

Volltextzugriff (PDF)

Dominant mutations in ORAI1 cause tubular aggregate myopathy with hypocalcemia via constitutive activation of store-operated Ca²⁺ channels

Human molecular genetics, 2015-02, Vol.24 (3), p.637-648

2015

Volltextzugriff (PDF)

1 – 25 von 1.266

Suche als RSS-Feed

Suchergebnisse filtern

Filter anzeigen

Nur zeigen

Geprüft (Peer-Review)
(1.052)
Mit Volltextzugriff
(1.175)

Publikationsform

Sprache

Englisch
(1.140)
Japanisch
(453)
Koreanisch
(3)

Erscheinungsjahr

n.n

Thema

15 weitere anzeigen...

Weniger anzeigen...

Zeitschrift / Serie

5 weitere anzeigen...

Weniger anzeigen...

Neu hinzugefügt

... seit 30 Tagen
(2)
... seit 90 Tagen
(4)

Menü

Weitere Dienste

Einstellungen

A questionnaire-based survey of medical conditions in adults with Prader-Willi syndrome in Japan: implications for transitional care

Subtle Cardiovascular Abnormalities in Prader-Willi Syndrome Might Begin in Young Adulthood

European ceramic technology in the Far East: enamels and pigments in Japanese art from the 16th to the 20th century and their reverse influence on China

Maternal age effect on the development of Prader-Willi syndrome resulting from upd(15)mat through meiosis 1 errors

Perinatal and neonatal characteristics of Prader–Willi syndrome in Japan

Contribution of gene mutations to Silver-Russell syndrome phenotype: multigene sequencing analysis in 92 etiology-unknown patients

Primary hyperparathyroidism in a child with abdominal pain and hematuria

Characteristic findings of skeletal muscle MRI in caveolinopathies

Genome-wide methylation analysis in Silver-Russell syndrome, Temple syndrome, and Prader-Willi syndrome

Growth hormone treatment for osteoporosis in patients with scoliosis of Prader-Willi syndrome

The characteristics of scoliosis in Prader–Willi syndrome (PWS): analysis of 58 scoliosis patients with PWS

Primary hyperparathyroidism in a child with abdominal pain and hematuria

Additional patients with 4q deletion: Severe growth delay and polycystic kidney disease associated with 4q21q22 loss

Differing phenotypes of Moyamoya disease in a familial case involving heterozygous c.14429G > A variant in RNF213

Epilepsy and West syndrome in neonates with hypoxic-ischemic encephalopathy

The early porcelain kilns of Arita: Identification of raw materials and their use from the 17th to the 19th century

Autistic, Aberrant, and Food-Related Behaviors in Adolescents and Young Adults with Prader-Willi Syndrome: The Effects of Age and Genotype

An autopsy case of lymphomatosis cerebri showing pathological changes of intravascular large B‐cell lymphoma in visceral organs

Idiopathic hypereosinophilic syndrome complicated by central sinovenous thrombosis

Gender Differences in the Behavioral Symptom Severity of Prader-Willi Syndrome

Characterization of Diabetes Mellitus in Japanese Prader-Willi Syndrome

Birth seasonality in Prader-Willi syndrome resulting from chromosome 15 microdeletion

An autopsied case of panencephalopathic‐type Creutzfeldt‐Jakob disease with mutation in the prion protein gene at codon 232 and type 1 prion protein

Functional analysis of ryanodine receptor type 1 p.R2508C mutation in exon 47

Dominant mutations in ORAI1 cause tubular aggregate myopathy with hypocalcemia via constitutive activation of store-operated Ca²⁺ channels

Suchergebnisse filtern