UB Paderborn / Katalog / Suche / in CDI

1 – 25 von 70

Sortiert nach

A MID1 gene mutation in a patient with Opitz G/BBB syndrome that altered the 3D structure of SPRY domain

American journal of medical genetics. Part A, 2012-04, Vol.158A (4), p.726-731

2012

Volltextzugriff (PDF)

Spectrum of PHEX Mutations and FGF23 Profiles in a Taiwanese Cohort With X-Linked Hypophosphatemia Including 102 Patients

In vivo (Athens), 2024-01, Vol.38 (1), p.341-350

2024

Volltextzugriff (PDF)

Leptin expression and leptin receptor gene polymorphisms in growth hormone deficiency patients

Human genetics, 2011-04, Vol.129 (4), p.455-462

2011

Volltextzugriff (PDF)

Study of leptin levels and gene polymorphisms in patients with central precocious puberty

Pediatric research, 2012-04, Vol.71 (4), p.361-367

2012

Volltextzugriff (PDF)

Interstitial Deletions of the Short Arm of Chromosome 4 in a Patient With Mental Retardation and Focal Seizure

Pediatrics and neonatology, 2011-06, Vol.52 (3), p.165-168

2011

Volltextzugriff (PDF)

Treacher Collins Syndrome with a de Novo 5-bp Deletion in the TCOF1 Gene

Journal of the Formosan Medical Association, 2006, Vol.105 (6), p.518-521

2006

Volltextzugriff (PDF)

A polymorphism in the leptin receptor gene at position 223 is associated with growth hormone replacement therapy responsiveness in idiopathic short stature and growth hormone deficiency patients

European journal of medical genetics, 2012-12, Vol.55 (12), p.682-687

2012

Volltextzugriff (PDF)

Identification of a novel mutation and polymorphic change in the NIPBL gene of subjects with Cornelia de Lange syndrome

Genes & Genomics, 2008, 30(3), , pp.253-260

2008

Volltextzugriff (PDF)

A case of a Taiwanese patient with cleidocranial dysplasia possessing a de novo mutation of RUNX2 gene

Genes & Genomics, 2008, 30(4), , pp.383-388

2008

Volltextzugriff (PDF)

Kabuki make-up (Niikawa-Kuroki) syndrome with mosaicism ring chromosome X and incomplete XIST gene expression

Acta paediatrica Taiwanica = Taiwan er ke yi xue hui za zhi, 2007-01, Vol.48 (1), p.28

2007

Volltextzugriff (PDF)

Persistent falcine sinus and unilateral renal agenesis in a girl with Sotos syndrome

Clinical dysmorphology, 2011-01, Vol.20 (1), p.42

2011

Volltextzugriff (PDF)

Identification of a Novel Mutation and Polymorphic Change in the NIPBL Gene of Subjects with Cornelia de Lange Syndrome

Genes & genomics, 2008-06, Vol.30 (3), p.253-260

2008

Volltextzugriff (PDF)

Mutations and new polymorphic changes in the TCOF1 gene of patients with oculo-auriculo-vertebral spectrum and Treacher-Collins syndrome

Clinical dysmorphology, 2007-10, Vol.16 (4), p.261

2007

Volltextzugriff (PDF)

De Novo incontinentia pigmenti in female twins

Acta paediatrica Taiwanica = Taiwan er ke yi xue hui za zhi, 2004-05, Vol.45 (3), p.178

2004

Volltextzugriff (PDF)

Treacher Collins Syndrome with a de Novo 5-bp Deletion in the TCOF1 Gene

Journal of the Formosan Medical Association, 2006-06, Vol.105 (6), p.518-521

2006

Volltextzugriff (PDF)

The hydrophobic heptad repeat in Region III of Escherichia coli transcription factor sigma 54 is essential for core RNA polymerase binding

Microbiology (Society for General Microbiology), 1999-11, Vol.145 ( Pt 11), p.3081

1999

Volltextzugriff (PDF)

A Case of a Taiwanese Patient with Cleidocranial Dysplasia Possessing a de Novo Mutation of RUNX2 Gene

Genes & genomics, 2008-08, p.383-388

2008

Volltextzugriff (PDF)

Research Articles : A Case of a Taiwanese Patient with Cleidocranial Dysplasia Possessing a de Novo Mutation of RUNX2 Gene

Genes & genomics, 2008-08, Vol.30 (4), p.383

2008

Volltextzugriff (PDF)

Novel PHEX Gene Mutation in One Taiwanese Woman with Hypophosphatemic Rickets

Genes & Genomics, 2007, 29(1), , pp.37-42

2007

Volltextzugriff (PDF)

Research Articles : Novel PHEX Gene Mutation in One Taiwanese Woman with Hypophosphatemic Rickets

Genes & genomics, 2007-03, Vol.29 (1), p.37

2007

Volltextzugriff (PDF)

Identification of a Novel Frameshift Mutation in the ARSE Gene of a Newborn Boy Diagnosed with Chondrodysplasia Punctata 1 (CDPX1)

Genes & Genomics, 2007, 29(3), , pp.363-367

2007

Volltextzugriff (PDF)

Research Articles : Identification of a Novel Frameshift Mutation in the ARSE Gene of a Newborn Boy Diagnosed with Chondrodysplasia Punctata 1 (CDPX1)

Genes & genomics, 2007-09, Vol.29 (3), p.363

2007

Volltextzugriff (PDF)

De Novo Partial Trisomy 14 and Extra Marker Chromosome in a Newborn Male with The CHARGE Syndrome

Genes & Genomics, 2007, 29(1), , pp.91-97

2007

Volltextzugriff (PDF)

Research Articles : De Novo Partial Trisomy 14 and Extra Marker Chromosome in a Newborn Male with CHARGE Syndrome

Genes & genomics, 2007-03, Vol.29 (1), p.91

2007

Volltextzugriff (PDF)

Conceptualizing Context and Its Relationship to the Information Behavior in Disseertation Research Process

Tʻu shu kuan hsüeh yü tzŭ hsün kʻo hsüeh, 2000-10, Vol.26 (2)

2000

Volltextzugriff (PDF)

1 – 25 von 70

Suche als RSS-Feed

Suchergebnisse filtern

Filter anzeigen

Nur zeigen

Geprüft (Peer-Review)
(57)
Mit Volltextzugriff
(49)

Publikationsform

Artikel
(68)
Tagungsberichte
(2)

Sprache

Erscheinungsjahr

n.n

Thema

15 weitere anzeigen...

Weniger anzeigen...

Menü

Weitere Dienste

Einstellungen

A MID1 gene mutation in a patient with Opitz G/BBB syndrome that altered the 3D structure of SPRY domain

Spectrum of PHEX Mutations and FGF23 Profiles in a Taiwanese Cohort With X-Linked Hypophosphatemia Including 102 Patients

Leptin expression and leptin receptor gene polymorphisms in growth hormone deficiency patients

Study of leptin levels and gene polymorphisms in patients with central precocious puberty

Interstitial Deletions of the Short Arm of Chromosome 4 in a Patient With Mental Retardation and Focal Seizure

Treacher Collins Syndrome with a de Novo 5-bp Deletion in the TCOF1 Gene

A polymorphism in the leptin receptor gene at position 223 is associated with growth hormone replacement therapy responsiveness in idiopathic short stature and growth hormone deficiency patients

Identification of a novel mutation and polymorphic change in the NIPBL gene of subjects with Cornelia de Lange syndrome

A case of a Taiwanese patient with cleidocranial dysplasia possessing a de novo mutation of RUNX2 gene

Kabuki make-up (Niikawa-Kuroki) syndrome with mosaicism ring chromosome X and incomplete XIST gene expression

Persistent falcine sinus and unilateral renal agenesis in a girl with Sotos syndrome

Identification of a Novel Mutation and Polymorphic Change in the NIPBL Gene of Subjects with Cornelia de Lange Syndrome

Mutations and new polymorphic changes in the TCOF1 gene of patients with oculo-auriculo-vertebral spectrum and Treacher-Collins syndrome

De Novo incontinentia pigmenti in female twins

Treacher Collins Syndrome with a de Novo 5-bp Deletion in the TCOF1 Gene

The hydrophobic heptad repeat in Region III of Escherichia coli transcription factor sigma 54 is essential for core RNA polymerase binding

A Case of a Taiwanese Patient with Cleidocranial Dysplasia Possessing a de Novo Mutation of RUNX2 Gene

Research Articles : A Case of a Taiwanese Patient with Cleidocranial Dysplasia Possessing a de Novo Mutation of RUNX2 Gene

Novel PHEX Gene Mutation in One Taiwanese Woman with Hypophosphatemic Rickets

Research Articles : Novel PHEX Gene Mutation in One Taiwanese Woman with Hypophosphatemic Rickets

Identification of a Novel Frameshift Mutation in the ARSE Gene of a Newborn Boy Diagnosed with Chondrodysplasia Punctata 1 (CDPX1)

Research Articles : Identification of a Novel Frameshift Mutation in the ARSE Gene of a Newborn Boy Diagnosed with Chondrodysplasia Punctata 1 (CDPX1)

De Novo Partial Trisomy 14 and Extra Marker Chromosome in a Newborn Male with The CHARGE Syndrome

Research Articles : De Novo Partial Trisomy 14 and Extra Marker Chromosome in a Newborn Male with CHARGE Syndrome

Conceptualizing Context and Its Relationship to the Information Behavior in Disseertation Research Process

Suchergebnisse filtern