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Cardio-pathogenic variants in unexplained intrauterine fetal death: a retrospective pilot study

Scientific reports, 2021-03, Vol.11 (1), p.6737-6737, Article 6737

2021

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Quantitative and qualitative trophectoderm grading allows for prediction of live birth and gender

Journal of assisted reproduction and genetics, 2016-01, Vol.33 (1), p.49-57

2016

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Characterization of the injection funnel during intracytoplasmic sperm injection reflects cytoplasmic maturity of the oocyte

Fertility and sterility, 2016-10, Vol.106 (5), p.1101-1106

2016

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A novel protein truncating mutation in L2HGDH causes L-2-hydroxyglutaric aciduria in a consanguineous Pakistani family

Metabolic brain disease, 2022-01, Vol.37 (1), p.243-252

2022

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Identification of risk genes for autism spectrum disorder through copy number variation analysis in Austrian families

Neurogenetics, 2014-05, Vol.15 (2), p.117-127

2014

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Identification of a novel protein truncating mutation p.Asp98 in XPC associated with xeroderma pigmentosum in a consanguineous Pakistani family

Molecular genetics & genomic medicine, 2020-02, Vol.8 (2), p.e1060-n/a

2020

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Yellow laser acupuncture - A new option for prevention and early intervention of lifestyle-related diseases: A randomized, placebo-controlled trial in volunteers

LASER THERAPY, 2015, Vol.24(1), pp.53-61

2015

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MODY type 2 in Greig cephalopolysyndactyly syndrome (GCPS) as part of a contiguous gene deletion syndrome

American journal of medical genetics. Part A, 2011-10, Vol.155 (10), p.2469-2472

2011

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Molecular and genomic studies of IMMP2L and mutation screening in autism and Tourette syndrome

Molecular genetics and genomics : MGG, 2007-01, Vol.277 (1), p.71-81

2007

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The RAY1/ST7 Tumor-Suppressor Locus on Chromosome 7q31 Represents a Complex Multi-transcript System

Genomics (San Diego, Calif.), 2002-09, Vol.80 (3), p.283-294

2002

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An exceptional biallelic N-terminal frame shift mutation in ZMPSTE24 leads to non-lethal progeria due to possible utilization of a downstream alternative start codon

Gene, 2022-07, Vol.833, p.146582-146582, Article 146582

2022

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Phenotypic and molecular characterisation of a de novo 5q deletion that includes the APC gene

Journal of human genetics, 2006-02, Vol.51 (2), p.141-146

2006

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Molecular characterisation of a 15 Mb constitutional de novo interstitial deletion of chromosome 3p in a boy with developmental delay and congenital anomalies

Journal of human genetics, 2003-06, Vol.48 (6), p.283-287

2003

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Oocyte competence in in vitro fertilization and intracytoplasmic sperm injection patients suffering from endometriosis and its possible association with subsequent treatment outcome: a matched case–control study

Acta obstetricia et gynecologica Scandinavica, 2017-06, Vol.96 (6), p.736-744

2017

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Analysis of a non‐lethal biallelic frameshift mutation in ZMPSTE24 reveals utilization of alternative translation initiation codons

Clinical genetics, 2023-10, Vol.104 (4), p.491-496

2023

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An X-Linked Myopathy with Postural Muscle Atrophy and Generalized Hypertrophy, Termed XMPMA, Is Caused by Mutations in FHL1

American journal of human genetics, 2008-01, Vol.82 (1), p.88-99

2008

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Is the molecular clock ticking differently in bipolar disorder? Methylation analysis of the clock gene ARNTL

The world journal of biological psychiatry, 2018-10, Vol.19 (sup2), p.S21-S29

2018

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Heterozygous missense mutations in BSCL2 are associated with distal hereditary motor neuropathy and Silver syndrome

Nature genetics, 2004-03, Vol.36 (3), p.271-276

2004

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Time-lapse imaging provides further evidence that planar arrangement of blastomeres is highly abnormal

Archives of gynecology and obstetrics, 2017-12, Vol.296 (6), p.1199-1205

2017

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Genetic study of Khyber-Pukhtunkhwa resident Pakistani families presenting primary microcephaly with intellectual disability

Journal of the Pakistan Medical Association, 2019-12, Vol.69 (12), p.1812-1816

2019

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Viability of cumulus cells is associated with basal AMH levels in assisted reproduction

European journal of obstetrics & gynecology and reproductive biology, 2014-12, Vol.183, p.59-63

2014

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Prenatal detection of chromosome aneuploidy by quantitative fluorescence PCR

Methods in molecular biology (Clifton, N.J.), 2008, Vol.444, p.71

2008

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Disruption of a Novel Gene ( IMMP2L) by a Breakpoint in 7q31 Associated with Tourette Syndrome

American journal of human genetics, 2001-04, Vol.68 (4), p.848-858

2001

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Three different profiles: Early socio-communicative capacities in typical Rett syndrome, the preserved speech variant and normal development

Developmental neurorehabilitation, 2014-02, Vol.17 (1), p.34-38

2014

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Cardio-pathogenic variants in unexplained intrauterine fetal death: a retrospective pilot study

Rare exonic deletions implicate the synaptic organizer Gephyrin (GPHN) in risk for autism, schizophrenia and seizures

Quantitative and qualitative trophectoderm grading allows for prediction of live birth and gender

Characterization of the injection funnel during intracytoplasmic sperm injection reflects cytoplasmic maturity of the oocyte

A novel protein truncating mutation in L2HGDH causes L-2-hydroxyglutaric aciduria in a consanguineous Pakistani family

Identification of risk genes for autism spectrum disorder through copy number variation analysis in Austrian families

Identification of a novel protein truncating mutation p.Asp98 in XPC associated with xeroderma pigmentosum in a consanguineous Pakistani family

Yellow laser acupuncture - A new option for prevention and early intervention of lifestyle-related diseases: A randomized, placebo-controlled trial in volunteers

MODY type 2 in Greig cephalopolysyndactyly syndrome (GCPS) as part of a contiguous gene deletion syndrome

Molecular and genomic studies of IMMP2L and mutation screening in autism and Tourette syndrome

The RAY1/ST7 Tumor-Suppressor Locus on Chromosome 7q31 Represents a Complex Multi-transcript System

An exceptional biallelic N-terminal frame shift mutation in ZMPSTE24 leads to non-lethal progeria due to possible utilization of a downstream alternative start codon

Phenotypic and molecular characterisation of a de novo 5q deletion that includes the APC gene

Molecular characterisation of a 15 Mb constitutional de novo interstitial deletion of chromosome 3p in a boy with developmental delay and congenital anomalies

Oocyte competence in in vitro fertilization and intracytoplasmic sperm injection patients suffering from endometriosis and its possible association with subsequent treatment outcome: a matched case–control study

Analysis of a non‐lethal biallelic frameshift mutation in ZMPSTE24 reveals utilization of alternative translation initiation codons

An X-Linked Myopathy with Postural Muscle Atrophy and Generalized Hypertrophy, Termed XMPMA, Is Caused by Mutations in FHL1

Is the molecular clock ticking differently in bipolar disorder? Methylation analysis of the clock gene ARNTL

Heterozygous missense mutations in BSCL2 are associated with distal hereditary motor neuropathy and Silver syndrome

Time-lapse imaging provides further evidence that planar arrangement of blastomeres is highly abnormal

Genetic study of Khyber-Pukhtunkhwa resident Pakistani families presenting primary microcephaly with intellectual disability

Viability of cumulus cells is associated with basal AMH levels in assisted reproduction

Prenatal detection of chromosome aneuploidy by quantitative fluorescence PCR

Disruption of a Novel Gene ( IMMP2L) by a Breakpoint in 7q31 Associated with Tourette Syndrome

Three different profiles: Early socio-communicative capacities in typical Rett syndrome, the preserved speech variant and normal development

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