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U mobilization and associated U isotope fractionation by sulfur-oxidizing bacteria

Frontiers in microbiology, 2023-07, Vol.14, p.1190962-1190962

2023

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The core FOXG1 syndrome phenotype consists of postnatal microcephaly, severe mental retardation, absent language, dyskinesia, and corpus callosum hypogenesis

Journal of medical genetics, 2011-06, Vol.48 (6), p.396-406

2011

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Trinucleotide repeat expansion in SCA17/TBP in white patients with Huntington’s disease-like phenotype

Journal of medical genetics, 2004-03, Vol.41 (3), p.230-232

2004

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Refining the phenotype of α-1a Tubulin (TUBA1A) mutation in patients with classical lissencephaly

Clinical genetics, 2008-11, Vol.74 (5), p.425-433

2008

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Clinical, radiological, and genetic survey of patients with muscle–eye–brain disease caused by mutations in POMGNT1

Neuromuscular disorders : NMD, 2016-10, Vol.26, p.S165-S165

2016

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Disturbed Wnt Signalling due to a Mutation in CCDC88C Causes an Autosomal Recessive Non-Syndromic Hydrocephalus with Medial Diverticulum

Molecular syndromology, 2010-09, Vol.1 (3), p.99-112

2010

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Dilatative uropathy as a manifestation of neurohypophyseal diabetes insipidus due to a novel mutation in the arginine vasopressin-neurophysin-II gene

Klinische Padiatrie, 2013-12, Vol.225 (7), p.407

2013

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Refining the phenotype of alpha-1a Tubulin (TUBA1A) mutation in patients with classical lissencephaly

Clinical genetics, 2008-11, Vol.74 (5), p.425-433

2008

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Isolation of a novel potassium channel gene hSKCa3 containing a polymorphic CAG repeat : a candidate for schizophrenia and bipolar disorder?

Molecular psychiatry, 1998, Vol.3 (1), p.32-37

1998

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Disparities in late and lost: Pediatricians' role in following Pompe disease identified by newborn screening

Molecular genetics and metabolism, 2023-09, Vol.140 (1-2), p.107633-107633, Article 107633

2023

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Location and type of mutation in the LIS1 gene do not predict phenotypic severity

Neurology, 2007-07, Vol.69 (5), p.442

2007

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RECURRENT RAB3GAP1 MUTATIONS IN THE TURKISH POPULATION

Genetic counseling, 2015-01, Vol.26 (4), p.415

2015

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DNA analysis of Huntington's disease: five years of experience in Germany, Austria, and Switzerland

Neurology, 1999-09, Vol.53 (4), p.801

1999

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Shared and distinguishing phenotypic characteristics of filamin c and desmoplakin cardiomyopathy

European heart journal, 2023-11, Vol.44 (Supplement_2)

2023

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P1.03-06 Integrative Omics Analysis Reveals Important Roles of Adenosine Diphosphate in Haemostasis and Platelet Activation in NSCLC

Journal of thoracic oncology, 2019-10, Vol.14 (10), p.S419-S419

2019

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Somatic mosaicism and variable penetrance in doublecortin-associated migration disorders

Neurology, 2003-01, Vol.60 (2), p.329

2003

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P2.03-10 Comprehensive Molecular Profiling and Comparison of Common and Rarer Subtypes of Lung Cancer

Journal of thoracic oncology, 2019-10, Vol.14 (10), p.S686-S686

2019

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Microdeletion 5q14.3 and anomalies of brain development

American journal of medical genetics. Part A, 2013-09, Vol.161A (9), p.2124-2133

2013

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Mutation screening of the KCNN3 gene reveals a rare frameshift mutation

Molecular psychiatry, 2001-05, Vol.6 (3), p.259-260

2001

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P.258 - Clinical, radiological, and genetic survey of patients with muscle–eye–brain disease caused by mutations in POMGNT1

Neuromuscular disorders : NMD, 2016-10, Vol.26, p.S165-S165

2016

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MA23.10 Low Number of Mutations and Frequent Co-Deletions of CDKN2A and IFN Type I Characterize Malignant Pleural Mesothelioma

Journal of thoracic oncology, 2019-10, Vol.14 (10), p.S345-S345

2019

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MA23.11 Analysis of Immune Phenotype Composition in Malignant Pleural Mesothelioma (MPM) Using Bulk RNA Sequencing

Journal of thoracic oncology, 2019-10, Vol.14 (10), p.S345-S346

2019

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61Prevalence and spectrum of genetic variants in a single-centre cohort of Brugada syndrome

Europace (London, England), 2017-10, Vol.19 (suppl_1), p.i28-i28

2017

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WS05-3 A prospective multi-centre study of tablet and web-based audiometry to detect hearing loss in adults with cystic fibrosis

Journal of cystic fibrosis, 2019-06, Vol.18, p.S9-S9

2019

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Association between hSKCa3 and schizophrenia not confirmed by transmission disequilibrium test in 193 offspring/parents trios

Molecular psychiatry, 1999-05, Vol.4 (3), p.267-270

1999

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U mobilization and associated U isotope fractionation by sulfur-oxidizing bacteria

The core FOXG1 syndrome phenotype consists of postnatal microcephaly, severe mental retardation, absent language, dyskinesia, and corpus callosum hypogenesis

Trinucleotide repeat expansion in SCA17/TBP in white patients with Huntington’s disease-like phenotype

Refining the phenotype of α-1a Tubulin (TUBA1A) mutation in patients with classical lissencephaly

Clinical, radiological, and genetic survey of patients with muscle–eye–brain disease caused by mutations in POMGNT1

Disturbed Wnt Signalling due to a Mutation in CCDC88C Causes an Autosomal Recessive Non-Syndromic Hydrocephalus with Medial Diverticulum

Dilatative uropathy as a manifestation of neurohypophyseal diabetes insipidus due to a novel mutation in the arginine vasopressin-neurophysin-II gene

Refining the phenotype of alpha-1a Tubulin (TUBA1A) mutation in patients with classical lissencephaly

Isolation of a novel potassium channel gene hSKCa3 containing a polymorphic CAG repeat : a candidate for schizophrenia and bipolar disorder?

Disparities in late and lost: Pediatricians' role in following Pompe disease identified by newborn screening

Location and type of mutation in the LIS1 gene do not predict phenotypic severity

RECURRENT RAB3GAP1 MUTATIONS IN THE TURKISH POPULATION

DNA analysis of Huntington's disease: five years of experience in Germany, Austria, and Switzerland

Shared and distinguishing phenotypic characteristics of filamin c and desmoplakin cardiomyopathy

P1.03-06 Integrative Omics Analysis Reveals Important Roles of Adenosine Diphosphate in Haemostasis and Platelet Activation in NSCLC

Somatic mosaicism and variable penetrance in doublecortin-associated migration disorders

P2.03-10 Comprehensive Molecular Profiling and Comparison of Common and Rarer Subtypes of Lung Cancer

Microdeletion 5q14.3 and anomalies of brain development

Mutation screening of the KCNN3 gene reveals a rare frameshift mutation

P.258 - Clinical, radiological, and genetic survey of patients with muscle–eye–brain disease caused by mutations in POMGNT1

MA23.10 Low Number of Mutations and Frequent Co-Deletions of CDKN2A and IFN Type I Characterize Malignant Pleural Mesothelioma

MA23.11 Analysis of Immune Phenotype Composition in Malignant Pleural Mesothelioma (MPM) Using Bulk RNA Sequencing

61Prevalence and spectrum of genetic variants in a single-centre cohort of Brugada syndrome

WS05-3 A prospective multi-centre study of tablet and web-based audiometry to detect hearing loss in adults with cystic fibrosis

Association between hSKCa3 and schizophrenia not confirmed by transmission disequilibrium test in 193 offspring/parents trios

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