UB Paderborn / Katalog / Suche / in CDI

Sortiert nach

Einfacher Volltextzugriff von (fast) überall

Installieren Sie die LibKey Nomad-Browsererweiterung und erhalten Sie von vielen Webseiten einfachen Zugriff auf lizenzierte Volltexte oder Open Access Publikationen. Mehr erfahren...

Brazil's Craniofacial Project: Different approaches on orofacial clefts and 22q11.2 deletion syndrome

American journal of medical genetics. Part C, Seminars in medical genetics, 2020-12, Vol.184 (4), p.912-927

2020

Volltextzugriff (PDF)

Biallelic frameshift variant in the TBC1D2B gene in two siblings with progressive gingival overgrowth, fibrous dysplasia of face, and mental deterioration

Clinical genetics, 2022-12, Vol.102 (6), p.537-542

2022

Volltextzugriff (PDF)

Genome Sequencing in an Individual Presenting with 22q11.2 Deletion Syndrome and Juvenile Idiopathic Arthritis

Genes, 2024-04, Vol.15 (4), p.513

2024

Volltextzugriff (PDF)

Testing criteria for 22q11.2 deletion syndrome: preliminary results of a low cost strategy for public health

Orphanet journal of rare diseases, 2019-06, Vol.14 (1), p.123-8, Article 123

2019

Volltextzugriff (PDF)

Variants in KMT2A in Three Individuals with Previous Suspicion of 22q11.2 Deletion Syndrome

Genes, 2024-02, Vol.15 (2), p.211

2024

Volltextzugriff (PDF)

Genomic imbalances in syndromic congenital heart disease

Jornal de pediatria, 2017-09, Vol.93 (5), p.497-507

2017

Volltextzugriff (PDF)

SATB2 -Associated Syndrome Due to a c.715C>T:p(Arg239) Variant in Adulthood: Natural History and Literature Review

Genes, 2023-04, Vol.14 (4), p.882

2023

Volltextzugriff (PDF)

Dual Molecular Diagnoses of Recessive Disorders in a Child from Consanguineous Parents: Case Report and Literature Review

Genes, 2022-12, Vol.13 (12), p.2377

2022

Volltextzugriff (PDF)

Rare 15q21.1q22.31 Duplication Due to a Familial Chromosomal Insertion and Diagnostic Investigation in a Carrier of Balanced Chromosomal Rearrangement and Intellectual Disability

Genes, 2023-04, Vol.14 (4), p.885

2023

Volltextzugriff (PDF)

Increased runs of homozygosity in the autosomal genome of Brazilian individuals with neurodevelopmental delay/intellectual disability and/or multiple congenital anomalies investigated by chromosomal microarray analysis

Genetics and molecular biology, 2022-01, Vol.45 (1), p.e20200480-e20200480

2022

Volltextzugriff (PDF)

A recognizable phenotype related to 19p13.12 microdeletion

American journal of medical genetics. Part A, 2018-08, Vol.176 (8), p.1753-1759

2018

Volltextzugriff (PDF)

Pure 21q22.3 deletion identified in a patient with mild phenotypic features

Congenital anomalies, 2018-09, Vol.58 (5), p.178-180

2018

Volltextzugriff (PDF)

A Pure 2-Mb 3q26.2 Duplication Proximal to the Critical Region of 3q Duplication Syndrome

Molecular syndromology, 2018-07, Vol.9 (4), p.197-204

2018

Volltextzugriff (PDF)

Microdeletion 3q13.2q21.2 in a Patient Previously Diagnosed with MOMO Syndrome

Molecular syndromology, 2024-03, p.1-8

2024

Volltextzugriff (PDF)

Multiple Aneuploidy: First Report of a Patient Presenting with a Karyotype 45,X/48,XXX,+21

Cytogenetic and genome research, 2024-10, Vol.164 (2), p.103-109

2024

Volltextzugriff (PDF)

Insertional translocation of 15q25‐q26 into 11p13 and duplication at 8p23.1 characterized by high resolution arrays in a boy with congenital malformations and aniridia

American journal of medical genetics. Part A, 2012-11, Vol.158A (11), p.2905-2910

2012

Volltextzugriff (PDF)

Novel variants in the SOX11 gene: clinical description of seven new patients

European journal of human genetics : EJHG, 2024-09

2024

Volltextzugriff (PDF)

Microdeletion 1p32p31 Presenting with Moyamoya Disease and Incomplete Hippocampal Inversion

Molecular syndromology, 2024-06, p.225-231

2024

Volltextzugriff (PDF)

Low‐pass whole genome sequencing as a cost‐effective alternative to chromosomal microarray analysis for low‐ and middle‐income countries

American journal of medical genetics. Part A, 2024-11, Vol.194 (11), p.e63802-n/a

2024

Volltextzugriff (PDF)

22q11.2 Deletion Syndrome: Influence of Parental Origin on Clinical Heterogeneity

Genes, 2024-04, Vol.15 (4), p.518

2024

Volltextzugriff (PDF)

A boy with partial dup(18q)/del(18p) due to a maternal pericentric inversion: Genotype–phenotype correlation and risk of recombinant chromosomes based on systematic review of the literature

American journal of medical genetics. Part A, 2017-01, Vol.173 (1), p.143-150

2017

Volltextzugriff (PDF)

A New Case of the Rare 10q22.3q23.2 Microdeletion Flanked by Low-Copy Repeats 3/4

Molecular syndromology, 2017-05, Vol.8 (3), p.161-167

2017

Volltextzugriff (PDF)

Partial monosomy 21 (q11.2→q21.3) combined with 3p25.3→pter monosomy due to an unbalanced translocation in a patient presenting dysmorphic features and developmental delay

Gene, 2013-01, Vol.513 (2), p.301-304

2013

Volltextzugriff (PDF)

SOX3 duplication in a boy with 46,XX ovotesticular disorder of sex development and his 46,XX sister with atypical genitalia: Probable germline mosaicism

American journal of medical genetics. Part A, 2023-02, Vol.191 (2), p.592-598

2023

Volltextzugriff (PDF)

Diagnostic Approach to Microdeletion Syndromes Based on 22q11.2 Investigation: Challenges in Four Cases

Molecular syndromology, 2017-08, Vol.8 (5), p.244-252

2017

Volltextzugriff (PDF)

1 – 25 von 62

Suche als RSS-Feed

Suchergebnisse filtern

Filter anzeigen

Nur zeigen

Geprüft (Peer-Review)
(52)
Mit Volltextzugriff
(57)

Publikationsform

Sprache

Englisch
(57)
Portugiesisch
(5)

Erscheinungsjahr

n.n

Thema

15 weitere anzeigen...

Weniger anzeigen...

Neu hinzugefügt

... seit 30 Tagen
(1)

Menü

Weitere Dienste

Einstellungen

Brazil's Craniofacial Project: Different approaches on orofacial clefts and 22q11.2 deletion syndrome

Biallelic frameshift variant in the TBC1D2B gene in two siblings with progressive gingival overgrowth, fibrous dysplasia of face, and mental deterioration

Genome Sequencing in an Individual Presenting with 22q11.2 Deletion Syndrome and Juvenile Idiopathic Arthritis

Testing criteria for 22q11.2 deletion syndrome: preliminary results of a low cost strategy for public health

Variants in KMT2A in Three Individuals with Previous Suspicion of 22q11.2 Deletion Syndrome

Genomic imbalances in syndromic congenital heart disease

SATB2 -Associated Syndrome Due to a c.715C>T:p(Arg239) Variant in Adulthood: Natural History and Literature Review

Dual Molecular Diagnoses of Recessive Disorders in a Child from Consanguineous Parents: Case Report and Literature Review

Rare 15q21.1q22.31 Duplication Due to a Familial Chromosomal Insertion and Diagnostic Investigation in a Carrier of Balanced Chromosomal Rearrangement and Intellectual Disability

Increased runs of homozygosity in the autosomal genome of Brazilian individuals with neurodevelopmental delay/intellectual disability and/or multiple congenital anomalies investigated by chromosomal microarray analysis

A recognizable phenotype related to 19p13.12 microdeletion

Pure 21q22.3 deletion identified in a patient with mild phenotypic features

A Pure 2-Mb 3q26.2 Duplication Proximal to the Critical Region of 3q Duplication Syndrome

Microdeletion 3q13.2q21.2 in a Patient Previously Diagnosed with MOMO Syndrome

Multiple Aneuploidy: First Report of a Patient Presenting with a Karyotype 45,X/48,XXX,+21

Insertional translocation of 15q25‐q26 into 11p13 and duplication at 8p23.1 characterized by high resolution arrays in a boy with congenital malformations and aniridia

Novel variants in the SOX11 gene: clinical description of seven new patients

Microdeletion 1p32p31 Presenting with Moyamoya Disease and Incomplete Hippocampal Inversion

Low‐pass whole genome sequencing as a cost‐effective alternative to chromosomal microarray analysis for low‐ and middle‐income countries

22q11.2 Deletion Syndrome: Influence of Parental Origin on Clinical Heterogeneity

A boy with partial dup(18q)/del(18p) due to a maternal pericentric inversion: Genotype–phenotype correlation and risk of recombinant chromosomes based on systematic review of the literature

A New Case of the Rare 10q22.3q23.2 Microdeletion Flanked by Low-Copy Repeats 3/4

Partial monosomy 21 (q11.2→q21.3) combined with 3p25.3→pter monosomy due to an unbalanced translocation in a patient presenting dysmorphic features and developmental delay

SOX3 duplication in a boy with 46,XX ovotesticular disorder of sex development and his 46,XX sister with atypical genitalia: Probable germline mosaicism

Diagnostic Approach to Microdeletion Syndromes Based on 22q11.2 Investigation: Challenges in Four Cases

Suchergebnisse filtern