The gene for Nijmegen breakage syndrome (V2) is not located on chromosome 11

Gut microbiota development of preterm infants hospitalised in intensive care units.

Beneficial microbes·2019

Klinefelter syndrome and fertility-Impact of X-chromosomal inheritance on spermatogenesis.

Andrologia·2018

Expanding the mutation spectrum in ICF syndrome: Evidence for a gender bias in ICF2.

Clinical genetics·2017

Klinefelter syndrome and fertility: sperm preservation should not be offered to children with Klinefelter syndrome.

Human reproduction (Oxford, England)·2016

Study of reorientation processes in L10-ordered FePt thin films.

Intermetallics·2016

Detection of cross-sex chimerism in the common marmoset monkey (Callithrix jacchus) in interphase cells using fluorescence in situ hybridisation probes specific for the marmoset X and Y chromosomes.

Reproduction, fertility, and development·2016

Hypomorphic IDUA genotypes are associated with retinitis pigmentosa in individuals without syndromic mucopolysaccharidosis type I.

American journal of human genetics·2026

Integrating clinical diagnostics with interventional genetics for neurodevelopmental disorders.

American journal of human genetics·2026

Effect heterogeneity reveals complex pleiotropic effects of rare coding variants.

American journal of human genetics·2026

Monoallelic variants in BRSK1 are associated with a neurodevelopmental disorder with or without epilepsy.

American journal of human genetics·2026

Genetic data sharing by clinical laboratories in Canada: A position statement by the Canadian College of Medical Geneticists.

American journal of human genetics·2026

Robust cis-by-trans epistasis in the human plasma proteome highlights an ABO-centered interaction network.

American journal of human genetics·2026

Identification of the Novel HLA-G*01:01:39 Allele Using PolyseqOne Sequencing.

HLA·2026

Identification and Characterisation of a Novel HLA-DPB1*1985:01 Allele by Long-Read Sequencing.

HLA·2026

Splenomegaly With Thrombocytopenia: A Case of the Rare and Obvious.

Journal of pediatric hematology/oncology·2026

Characterisation of the Novel HLA-DPB1*1933:01 Allele by Sequencing-Based Typing.

HLA·2026

Characterisation of the Novel HLA-B*27:313 Allele by Sequencing-Based Typing.

HLA·2026

Humoral Immune Variability in Twin Sisters With SKIV2L-Associated Trichohepatoenteric Syndrome.

Cureus·2026

Related Experiment Videos

The gene for Nijmegen breakage syndrome (V2) is not located on chromosome 11

Related Concept Videos

Gut microbiota development of preterm infants hospitalised in intensive care units.

Klinefelter syndrome and fertility-Impact of X-chromosomal inheritance on spermatogenesis.

Expanding the mutation spectrum in ICF syndrome: Evidence for a gender bias in ICF2.

Klinefelter syndrome and fertility: sperm preservation should not be offered to children with Klinefelter syndrome.

Study of reorientation processes in L10-ordered FePt thin films.

Detection of cross-sex chimerism in the common marmoset monkey (Callithrix jacchus) in interphase cells using fluorescence in situ hybridisation probes specific for the marmoset X and Y chromosomes.

Hypomorphic IDUA genotypes are associated with retinitis pigmentosa in individuals without syndromic mucopolysaccharidosis type I.

Integrating clinical diagnostics with interventional genetics for neurodevelopmental disorders.

Effect heterogeneity reveals complex pleiotropic effects of rare coding variants.

Monoallelic variants in BRSK1 are associated with a neurodevelopmental disorder with or without epilepsy.

Genetic data sharing by clinical laboratories in Canada: A position statement by the Canadian College of Medical Geneticists.

Robust cis-by-trans epistasis in the human plasma proteome highlights an ABO-centered interaction network.

Identification of the Novel HLA-G*01:01:39 Allele Using PolyseqOne Sequencing.

Identification and Characterisation of a Novel HLA-DPB1*1985:01 Allele by Long-Read Sequencing.

Splenomegaly With Thrombocytopenia: A Case of the Rare and Obvious.

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Related Experiment Videos

The gene for Nijmegen breakage syndrome (V2) is not located on chromosome 11

Related Concept Videos

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