UB Paderborn / Katalog / Suche / in CDI

1 – 22 von 22

Sortiert nach

Genetic syndromes and prenatally detected renal anomalies

Seminars in fetal & neonatal medicine, 2008-06, Vol.13 (3), p.171-180

2008

Volltextzugriff (PDF)

A Microdeletion at 12q24.31 Can Mimic Beckwith-Wiedemann Syndrome Neonatally

Molecular syndromology, 2010-02, Vol.1 (1), p.42-45

2010

Volltextzugriff (PDF)

Unilateral condylar hyperplasia in hemifacial hyperplasia, is there genetic proof of overgrowth?

International journal of oral and maxillofacial surgery, 2020-11, Vol.49 (11), p.1464-1469

2020

Volltextzugriff (PDF)

Molecular basis of unilateral condylar hyperplasia?

International journal of oral and maxillofacial surgery, 2020-11, Vol.49 (11), p.1397-1401

2020

Volltextzugriff (PDF)

Is Marfan syndrome associated with symptomatic intracranial aneurysms ?

Stroke (1970), 1996, Vol.27 (1), p.10-12

1996

Volltextzugriff (PDF)

Development and validation of a severity scoring system for Zellweger spectrum disorders

Clinical genetics, 2018-03, Vol.93 (3), p.613-621

2018

Volltextzugriff (PDF)

Keloids in Rubinstein-Taybi syndrome: a clinical study

British journal of dermatology (1951), 2014-09, Vol.171 (3), p.615-621

2014

Volltextzugriff (PDF)

Arterial tortuosity syndrome: clinical and molecular findings in 12 newly identified families

Human mutation, 2008, Vol.29 (1), p.150-158

2008

Volltextzugriff (PDF)

Fifteen new mutations (-195C>T, L-12X, 298-2A>G, T117N, A159T, R229S, 997+2T>A, E274X, A331T, H364R, D389G, 1256delC, R433H, N461I, C472S) in the tissue-nonspecific alkaline phosphatase (TNSALP) gene in patients with hypophosphatasia

Human mutation, 2000-03, Vol.15 (3), p.293-293

2000

Volltextzugriff (PDF)

Frequent intragenic rearrangements of DPYD in colorectal tumours

The pharmacogenomics journal, 2015-06, Vol.15 (3), p.211-218

2015

Volltextzugriff (PDF)

Testing for mosaicism in genetic entities - to swab or not to swab: in Cornelia de Lange syndrome no longer the question

Tijdschrift voor kindergeneeskunde, 2013-02, Vol.81 (S1), p.55-55

2013

Volltextzugriff (PDF)

Testing for mosaicism in genetic entities - to swab or not to swab: in Cornelia de Lange syndrome no longer the question

Tijdschrift voor kindergeneeskunde, 2013, Vol.81 (Suppl 1), p.55-55

2013

Volltextzugriff (PDF)

Growth-Reductive Therapy in Children with Marfan Syndrome

The Journal of pediatrics, 2005-11, Vol.147 (5), p.674-679

2005

Volltextzugriff (PDF)

Short-limbed dwarfism with bowing, combined immune deficiency, and late onset aplastic anaemia caused by novel mutations in the RMPR gene

Journal of medical genetics, 2003-10, Vol.40 (10), p.761-766

2003

Volltextzugriff (PDF)

An aetiological study of 25 mentally retarded adults with autism

Journal of medical genetics, 2002-03, Vol.39 (3), p.205-214

2002

Volltextzugriff (PDF)

Genetic linkage of candidate genes in families with abdominal aortic aneurysms?

European journal of vascular and endovascular surgery, 2003-08, Vol.26 (2), p.205-210

2003

Volltextzugriff (PDF)

Genetic heterogeneity in tuberous sclerosis

Genomics (San Diego, Calif.), 1990-10, Vol.8 (2), p.237-242

1990

Volltextzugriff (PDF)

Purine and Pyrimidine Metabolism

Reference Module in Biomedical Research, 2014

2014

Volltextzugriff (PDF)

Deletion at chromosome 16p13. 3 as a cause of Rubinstein-Taybi syndrome: Clinical aspects

American journal of human genetics, 1993-02, Vol.52:2

1993

Volltextzugriff (PDF)

Rubinstein-Taybi syndrome caused by submicroscopic deletions within 16p13. 3

American journal of human genetics, 1993-02, Vol.52:2

1993

Volltextzugriff (PDF)

An outbreak of gastroenteritis due to Escherichia coli 0142 H6 in a neonatal department

The Journal of hospital infection, 1984-09, Vol.5 (3), p.283-288

1984

Volltextzugriff (PDF)

18q− and 18q+ mosaicism in a mentally retarded boy

American journal of medical genetics, 1994-11, Vol.53 (3), p.296-299

1994

Volltextzugriff (PDF)

1 – 22 von 22

Suche als RSS-Feed

Suchergebnisse filtern

Filter anzeigen

Nur zeigen

Geprüft (Peer-Review)
(18)
Mit Volltextzugriff
(19)

Publikationsform

Artikel
(21)
Buchkapitel
(1)

Sprache

Erscheinungsjahr

n.n

Thema

15 weitere anzeigen...

Weniger anzeigen...

Menü

Weitere Dienste

Einstellungen

Genetic syndromes and prenatally detected renal anomalies

A Microdeletion at 12q24.31 Can Mimic Beckwith-Wiedemann Syndrome Neonatally

Unilateral condylar hyperplasia in hemifacial hyperplasia, is there genetic proof of overgrowth?

Molecular basis of unilateral condylar hyperplasia?

Is Marfan syndrome associated with symptomatic intracranial aneurysms ?

Development and validation of a severity scoring system for Zellweger spectrum disorders

Keloids in Rubinstein-Taybi syndrome: a clinical study

Arterial tortuosity syndrome: clinical and molecular findings in 12 newly identified families

Fifteen new mutations (-195C>T, L-12X, 298-2A>G, T117N, A159T, R229S, 997+2T>A, E274X, A331T, H364R, D389G, 1256delC, R433H, N461I, C472S) in the tissue-nonspecific alkaline phosphatase (TNSALP) gene in patients with hypophosphatasia

Frequent intragenic rearrangements of DPYD in colorectal tumours

Testing for mosaicism in genetic entities - to swab or not to swab: in Cornelia de Lange syndrome no longer the question

Testing for mosaicism in genetic entities - to swab or not to swab: in Cornelia de Lange syndrome no longer the question

Growth-Reductive Therapy in Children with Marfan Syndrome

Short-limbed dwarfism with bowing, combined immune deficiency, and late onset aplastic anaemia caused by novel mutations in the RMPR gene

An aetiological study of 25 mentally retarded adults with autism

Genetic linkage of candidate genes in families with abdominal aortic aneurysms?

Genetic heterogeneity in tuberous sclerosis

Purine and Pyrimidine Metabolism

Deletion at chromosome 16p13. 3 as a cause of Rubinstein-Taybi syndrome: Clinical aspects

Rubinstein-Taybi syndrome caused by submicroscopic deletions within 16p13. 3

An outbreak of gastroenteritis due to Escherichia coli 0142 H6 in a neonatal department

18q− and 18q+ mosaicism in a mentally retarded boy

Suchergebnisse filtern