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Biallelic loss‐of‐function variants in DOCK3 cause muscle hypotonia, ataxia, and intellectual disability

Clinical genetics, 2017-10, Vol.92 (4), p.430-433

2017

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Homozygosity for mutation G212A of the gene for aspartoacylase is associated with atypical form of Canavan's disease

Clinical genetics, 2008-03, Vol.73 (3), p.288-289

2008

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De Novo Missense Variants in WDR37 Cause a Severe Multisystemic Syndrome

American journal of human genetics, 2019-08, Vol.105 (2), p.425-433

2019

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The Use of 3d Motion Analysis in a Patient with an Atypical Juvenile Neuronal Ceroid Lipofuscinoses Phenotype with CLN1 Mutation and Deficient PPT Activity

Journal of developmental and physical disabilities, 2012-04, Vol.24 (2), p.155-165

2012

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Substrate Reduction Therapy in Four Patients with Milder CLN1 Mutations and Juvenile-Onset Batten Disease Using Cysteamine Bitartrate

JIMD Reports - Volume 11, 2013, Vol.11, p.87-92

2013

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Polycystic kidneys and del (4)(q21.1q21.3): further delineation of a distinct phenotype

European journal of medical genetics, 2005, Vol.48 (1), p.51-55

2005

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Sickle Retinopathy in a Person with Hemoglobin S/New York Disease

Case reports in genetics, 2012-01, Vol.2012 (2012), p.1-3

2012

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Prenatal diagnosis and a donor splice site mutation in fibrillin in a family with Marfan syndrome

American journal of human genetics, 1993-08, Vol.53 (2), p.472-480

1993

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An Interstitial 20q11.21 Microdeletion Causing Mild Intellectual Disability and Facial Dysmorphisms

Case reports in genetics, 2013-01, Vol.2013 (2013), p.1-5

2013

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The Feasibility of PCR-Based Diagnosis of Prader–Willi and Angelman Syndromes Using Restriction Analysis after Bisulfite Modification of Genomic DNA

Molecular genetics and metabolism, 2000-01, Vol.69 (1), p.81-83

2000

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Idiopathic Central Precocious Puberty Associated with 11 Mb De Novo Distal Deletion of the Chromosome 9 Short Arm

Case reports in genetics, 2013-01, Vol.2013 (2013), p.1-6

2013

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Telomere shortening in T lymphocytes of older individuals with Down syndrome and dementia

Neurobiology of aging, 2006-07, Vol.27 (7), p.941-945

2006

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The gene for achondroplasia maps to the telomeric region of chromosome 4p

Nature genetics, 1994-03, Vol.6 (3), p.314-317

1994

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Atypical 18p- syndrome associated with partial trisomy 16p in a chromosomally unbalanced child of consanguineous parents with an identical balanced translocation

European journal of medical genetics, 2005, Vol.48 (1), p.57-65

2005

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Characterization of an analphoid, neocentromere-positive inv dup 8p marker chromosome using multiplex whole chromosome and sub-telomere FISH analyses

Annales de génétique, 2004-04, Vol.47 (2), p.199-205

2004

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PCR-based molecular diagnosis of Prader-Willi and Angelman syndromes using restriction analysis after bisulfite treatment. Potential for quantitative estimation

Genetics in medicine, 1999-01, Vol.1 (2), p.75

1999

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Polycystic kidneys and del (4)(q21.1q21.3): further delineation of a distinct phenotype

Annales de génétique, 2004-09

2004

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PCR-based methylation testing for Prader-Willi or Angelman syndromes using archived fixed-cell suspensions

Genetic testing, 2001, Vol.5 (2), p.153-155

2001

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Variable clinical expression of mosaic trisomy 16 in the newborn infant

American journal of medical genetics, 1993-08, Vol.47 (2), p.294-298

1993

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Achondroplasia--new research and future goals

Molekuliarna meditsina = Molecular medicine, 1996, Vol.1 (1), p.13

1996

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The gene for achondroplasia maps to the telomeric regions of chromosome 4p

Nature genetics, 1994, Vol.6 (3), p.314-317

1994

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Anti-islet antibodies: methods for their determination and etiopathogenetic importance

Eksperimentalna meditsina i morfologiia, 1990, Vol.29 (4), p.62

Velinov, M

1990

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Homozygosity for mutation G212A of the gene for aspartoacylase is associated with atypical form of Canavan's disease

Clinical genetics, 2008, Vol.73 (3), p.288-289

2008

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Limb-Girdle Muscular Dystrophy is Closely Linked to the Fibrillin Locus on Chromosome 15

Connective tissue research, 1993, Vol.29 (1), p.13-21

1993

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Atypical 18p- syndrome associated with partial trisomy 16p in a chromosomally unbalanced child of consanguineous parents with an identical balanced translocation

Annales de génétique, 2004-09

2004

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Biallelic loss‐of‐function variants in DOCK3 cause muscle hypotonia, ataxia, and intellectual disability

Homozygosity for mutation G212A of the gene for aspartoacylase is associated with atypical form of Canavan's disease

De Novo Missense Variants in WDR37 Cause a Severe Multisystemic Syndrome

The Use of 3d Motion Analysis in a Patient with an Atypical Juvenile Neuronal Ceroid Lipofuscinoses Phenotype with CLN1 Mutation and Deficient PPT Activity

Substrate Reduction Therapy in Four Patients with Milder CLN1 Mutations and Juvenile-Onset Batten Disease Using Cysteamine Bitartrate

Polycystic kidneys and del (4)(q21.1q21.3): further delineation of a distinct phenotype

Sickle Retinopathy in a Person with Hemoglobin S/New York Disease

Prenatal diagnosis and a donor splice site mutation in fibrillin in a family with Marfan syndrome

An Interstitial 20q11.21 Microdeletion Causing Mild Intellectual Disability and Facial Dysmorphisms

The Feasibility of PCR-Based Diagnosis of Prader–Willi and Angelman Syndromes Using Restriction Analysis after Bisulfite Modification of Genomic DNA

Idiopathic Central Precocious Puberty Associated with 11 Mb De Novo Distal Deletion of the Chromosome 9 Short Arm

Telomere shortening in T lymphocytes of older individuals with Down syndrome and dementia

The gene for achondroplasia maps to the telomeric region of chromosome 4p

Atypical 18p- syndrome associated with partial trisomy 16p in a chromosomally unbalanced child of consanguineous parents with an identical balanced translocation

Characterization of an analphoid, neocentromere-positive inv dup 8p marker chromosome using multiplex whole chromosome and sub-telomere FISH analyses

PCR-based molecular diagnosis of Prader-Willi and Angelman syndromes using restriction analysis after bisulfite treatment. Potential for quantitative estimation

Polycystic kidneys and del (4)(q21.1q21.3): further delineation of a distinct phenotype

PCR-based methylation testing for Prader-Willi or Angelman syndromes using archived fixed-cell suspensions

Variable clinical expression of mosaic trisomy 16 in the newborn infant

Achondroplasia--new research and future goals

The gene for achondroplasia maps to the telomeric regions of chromosome 4p

Anti-islet antibodies: methods for their determination and etiopathogenetic importance

Homozygosity for mutation G212A of the gene for aspartoacylase is associated with atypical form of Canavan's disease

Limb-Girdle Muscular Dystrophy is Closely Linked to the Fibrillin Locus on Chromosome 15

Atypical 18p- syndrome associated with partial trisomy 16p in a chromosomally unbalanced child of consanguineous parents with an identical balanced translocation

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