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17q12 Deletion Syndrome as a Rare Cause for Diabetes Mellitus Type MODY5

The journal of clinical endocrinology and metabolism, 2018-10, Vol.103 (10), p.3601-3610

2018

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CRISPR-Cas12a for Highly Efficient and Marker-Free Targeted Integration in Human Pluripotent Stem Cells

International journal of molecular sciences, 2024-01, Vol.25 (2), p.985

2024

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New Cav1.2 Channelopathy with High-Functioning Autism, Affective Disorder, Severe Dental Enamel Defects, a Short QT Interval, and a Novel CACNA1C Loss-Of-Function Mutation

International journal of molecular sciences, 2020-11, Vol.21 (22), p.8611

2020

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Marfan Syndrome Caused by Disruption of the FBN1 Gene due to A Reciprocal Chromosome Translocation

Genes, 2021-11, Vol.12 (11), p.1836

2021

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Modeling MyD88 Deficiency In Vitro Provides New Insights in Its Function

Frontiers in immunology, 2020-12, Vol.11, p.608802-608802

2020

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Schizophrenia and Hereditary Polyneuropathy: PMP22 Deletion as a Common Pathophysiological Link?

Frontiers in psychiatry, 2019-05, Vol.10, p.270

2019

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17q12 Deletion Syndrome as a Rare Cause for Diabetes Mellitus Type MODY5

The journal of clinical endocrinology and metabolism, 2018-10, Vol.103 (10), p.3601-3610

2018

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Obsessive–compulsive symptoms and 15q11.2q13.1 duplication syndrome

European neuropsychopharmacology, 2024-01, Vol.78, p.67-69

2024

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Transposition of SRY into the Ancestral Pseudoautosomal Region Creates a New Pseudoautosomal Boundary in a Progenitor of Simian Primates

Human molecular genetics, 1999-10, Vol.8 (11), p.2071-2078

1999

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Isolation and characterization of the human forkhead gene FOXQ1

DNA and cell biology, 2001-09, Vol.20 (9), p.555-561

2001

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Lower aneuploidy rate in spermatozoa selected for ICSI

Fertility and sterility, 2002-09, Vol.78, p.S273-S273

2002

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Fibre-fluorescence in situ hybridization unravels apparently seven DAZ genes or pseudogenes clustered within a Y-chromosome region frequently deleted in azoospermic males

Chromosome research, 1998-09, Vol.6 (6), p.481-486

1998

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Tep22, a novel testicular expressed gene, is involved in the biogenesis of the acrosome and the midpiece of the sperm tail

Biochemical and biophysical research communications, 2002-10, Vol.297 (4), p.737-748

2002

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Obsessive-compulsive symptoms and 15q11.2q13.1 duplication syndrome

European neuropsychopharmacology : the journal of the European College of Neuropsychopharmacology, 2024, Vol.78, p.67-69

2024

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Simian Y chromosomes: species-specific rearrangements of DAZ, RBM, and TSPY versus contiguity of PAR and SRY

Mammalian genome, 1998-03, Vol.9 (3), p.226-231

1998

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Comparative mapping of YRRM- and TSPY-related cosmids in man and hominoid apes

Chromosome research, 1995-06, Vol.3 (4), p.227-234

1995

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Molecular cytogenetic analysis of a constitutional de novo interstitial deletion of chromosome 12p in a boy with developmental delay and congenital anomalies

American journal of medical genetics, 2003-01, Vol.116A (1), p.66-70

2003

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Marfan Syndrome Caused by Disruption of the FBN1 Gene due to A Reciprocal Chromosome Translocation

Genes, 2021, Vol.12 (11)

2021

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High-resolution fluorescence in situ hybridization of human Y-linked genes on released chromatin

Chromosome research, 1997-02, Vol.5 (1), p.23-30

1997

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New Cav1.2 Channelopathy with High-Functioning Autism, Affective Disorder, Severe Dental Enamel Defects, a Short QT Interval, and a Novel CACNA1C Loss-Of-Function Mutation

International journal of molecular sciences, 2020, Vol.21 (22)

2020

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Schizophrenia and Hereditary Polyneuropathy: PMP22 Deletion as a Common Pathophysiological Link?

Frontiers in psychiatry, 2019, Vol.10, p.270-270

2019

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Concerted evolution of members of the multisequence family chAB4 located on various nonhomologous chromosomes

Mammalian genome, 1998-01, Vol.9 (1), p.58-63

1998

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High-resolution fluorescence in situ hybridization of RBM- and TSPY-related cosmids on released Y chromatin in humans and pygmy chimpanzees

Chromosome research, 1996-04, Vol.4 (3), p.201-206

1996

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High-resolution fluorescencein situ hybridization ofRBM- andTSPY-related cosmids on released Y chromatin in humans and pygmy chimpanzees

Chromosome research, 1996-04, Vol.4 (3), p.201-206

1996

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Modulation of the endoplasmic reticulum–mitochondria interface in Alzheimer’s disease and related models

Proceedings of the National Academy of Sciences - PNAS, 2013-05, Vol.110 (19), p.7916-7921

2013

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17q12 Deletion Syndrome as a Rare Cause for Diabetes Mellitus Type MODY5

CRISPR-Cas12a for Highly Efficient and Marker-Free Targeted Integration in Human Pluripotent Stem Cells

New Cav1.2 Channelopathy with High-Functioning Autism, Affective Disorder, Severe Dental Enamel Defects, a Short QT Interval, and a Novel CACNA1C Loss-Of-Function Mutation

Marfan Syndrome Caused by Disruption of the FBN1 Gene due to A Reciprocal Chromosome Translocation

Modeling MyD88 Deficiency In Vitro Provides New Insights in Its Function

Schizophrenia and Hereditary Polyneuropathy: PMP22 Deletion as a Common Pathophysiological Link?

17q12 Deletion Syndrome as a Rare Cause for Diabetes Mellitus Type MODY5

Obsessive–compulsive symptoms and 15q11.2q13.1 duplication syndrome

Transposition of SRY into the Ancestral Pseudoautosomal Region Creates a New Pseudoautosomal Boundary in a Progenitor of Simian Primates

Isolation and characterization of the human forkhead gene FOXQ1

Lower aneuploidy rate in spermatozoa selected for ICSI

Fibre-fluorescence in situ hybridization unravels apparently seven DAZ genes or pseudogenes clustered within a Y-chromosome region frequently deleted in azoospermic males

Tep22, a novel testicular expressed gene, is involved in the biogenesis of the acrosome and the midpiece of the sperm tail

Obsessive-compulsive symptoms and 15q11.2q13.1 duplication syndrome

Simian Y chromosomes: species-specific rearrangements of DAZ, RBM, and TSPY versus contiguity of PAR and SRY

Comparative mapping of YRRM- and TSPY-related cosmids in man and hominoid apes

Molecular cytogenetic analysis of a constitutional de novo interstitial deletion of chromosome 12p in a boy with developmental delay and congenital anomalies

Marfan Syndrome Caused by Disruption of the FBN1 Gene due to A Reciprocal Chromosome Translocation

High-resolution fluorescence in situ hybridization of human Y-linked genes on released chromatin

New Cav1.2 Channelopathy with High-Functioning Autism, Affective Disorder, Severe Dental Enamel Defects, a Short QT Interval, and a Novel CACNA1C Loss-Of-Function Mutation

Schizophrenia and Hereditary Polyneuropathy: PMP22 Deletion as a Common Pathophysiological Link?

Concerted evolution of members of the multisequence family chAB4 located on various nonhomologous chromosomes

High-resolution fluorescence in situ hybridization of RBM- and TSPY-related cosmids on released Y chromatin in humans and pygmy chimpanzees

High-resolution fluorescencein situ hybridization ofRBM- andTSPY-related cosmids on released Y chromatin in humans and pygmy chimpanzees

Modulation of the endoplasmic reticulum–mitochondria interface in Alzheimer’s disease and related models

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