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Comparative Genomic Hybridization to Microarrays in Fetuses with High-Risk Prenatal Indications: Polish Experience with 7400 Pregnancies

Genes, 2022-04, Vol.13 (4), p.690

2022

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Unaffected patients with a homozygous absence of the SMN1 gene

European journal of human genetics : EJHG, 2008-08, Vol.16 (8), p.930-934

2008

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Use of sensor-augmented insulin pump in patient with diabetes and cystic fibrosis: evidence for improvement in metabolic control

Diabetes technology & therapeutics, 2008-02, Vol.10 (1), p.46-49

2008

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Subtelomeric rearrangements: results from FISH studies in 84 families with idiopathic mental retardation

Medical science monitor, 2004-04, Vol.10 (4), p.CR143-CR151

2004

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Novel RB1 gene constitutional mutations found in Polish patients with familial and/or bilateral retinoblastoma

Human mutation, 2001-11, Vol.18 (5), p.459-459

2001

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Epilepsy in three children with Wolf-Hirschhorn syndrome

Przeglad lekarski, 2005, Vol.62 (11), p.1298

2005

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Molecular Studies in Osteogenesis Imperfecta (OI)

Pediatric research, 1999-06, Vol.45 (6), p.924-924

1999

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Molecular Studies of Fibroblast Growth Factor-3 Receptor (Fgf3R) in 5 Infants With Diagnosis of Achondroplasia. 73

Pediatric research, 1997-09, Vol.42 (3), p.397-397

1997

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Low-Penetrance of RB-1 Gene Mutation in Familial Retinoblastoma 135

Pediatric research, 1996-09, Vol.40 (3), p.537-537

1996

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Badania molekularne w populacji dzieci chorych na astmę oskrzelową. Cz. I. Polimorfizm regionu promotorowego regionu CD14

Pneumonologia i alergologia polska, 2008-04, Vol.69 (5-6), p.265-272

2008

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Molecular studies in osteogenesis imperfecta (OI).II. Evaluation of intragenic polymorphic sites in COL1A1 and COL1A2 loci

Journal of applied genetics, 1998-01, Vol.39 (4), p.349-365

1998

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116 MOLECULAR ANALYSIS OF Rb-1 SEGREGATION PATTERN IN FAMILIES OF CHILDRREN WITH RETINOBLASTOMA

Pediatric research, 1994-07, Vol.36 (1), p.22-22A

1994

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Molecular studies in osteogenesis imperfecta (OI). I. Clinical analysis of patients with osteogenesis imperfecta

Journal of applied genetics, 1998-01, Vol.39 (4), p.331-348

1998

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Molecular studies in osteogenesis imperfecta (OI). III. cDNA of COL1A1 and COL1A2 analysis using the BESS-T-Scan technique

Journal of applied genetics, 1998-01, Vol.39 (4), p.367-373

1998

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Balanced chromosomal rearrangements resulting in intellectual disability. An analysis of 22 cases with application of CGH and FISH methods

Medycyna wieku rozwojowego, 2009-04, Vol.13 (2), p.81

2009

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164 RETINOBLASTOMA – FAMILIAL INCIDENCE, CYTOGENETIC STUDY AND SPINAL FLUID AND BONE MARROW EXAMINATIONS

Pediatric research, 1990-09, Vol.28 (3), p.304-304

1990

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Characterization of marker chromosomes using molecular cytogenetic methods in patients with mental retardation and congenital malformations

Medycyna wieku rozwojowego, 2006-01, Vol.10 (1 Pt 2), p.211

2006

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Genetic counselling in carriers of reciprocal chromosomal translocations involving short arm of chromosome X

Annales de génétique, 2004, Vol.47 (1), p.11-28

2004

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FRAX calculator and Garvan nomogram in male osteoporotic population

The aging male, 2014-09, Vol.17 (3), p.174-182

2014

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Wide Fontanels, Delayed Speech Development and Hoarse Voice as Useful Signs in the Diagnosis of KBG Syndrome: A Clinical Description of 23 Cases with Pathogenic Variants Involving the ANKRD11 Gene or Submicroscopic Chromosomal Rearrangements of 16q24.3

Comparative Genomic Hybridization to Microarrays in Fetuses with High-Risk Prenatal Indications: Polish Experience with 7400 Pregnancies

Unaffected patients with a homozygous absence of the SMN1 gene

Use of sensor-augmented insulin pump in patient with diabetes and cystic fibrosis: evidence for improvement in metabolic control

Subtelomeric rearrangements: results from FISH studies in 84 families with idiopathic mental retardation

Novel RB1 gene constitutional mutations found in Polish patients with familial and/or bilateral retinoblastoma

Epilepsy in three children with Wolf-Hirschhorn syndrome

Molecular Studies in Osteogenesis Imperfecta (OI)

Molecular Studies of Fibroblast Growth Factor-3 Receptor (Fgf3R) in 5 Infants With Diagnosis of Achondroplasia. 73

Low-Penetrance of RB-1 Gene Mutation in Familial Retinoblastoma 135

Badania molekularne w populacji dzieci chorych na astmę oskrzelową. Cz. I. Polimorfizm regionu promotorowego regionu CD14

Molecular studies in osteogenesis imperfecta (OI).II. Evaluation of intragenic polymorphic sites in COL1A1 and COL1A2 loci

116 MOLECULAR ANALYSIS OF Rb-1 SEGREGATION PATTERN IN FAMILIES OF CHILDRREN WITH RETINOBLASTOMA

Molecular studies in osteogenesis imperfecta (OI). I. Clinical analysis of patients with osteogenesis imperfecta

Molecular studies in osteogenesis imperfecta (OI). III. cDNA of COL1A1 and COL1A2 analysis using the BESS-T-Scan technique

Balanced chromosomal rearrangements resulting in intellectual disability. An analysis of 22 cases with application of CGH and FISH methods

164 RETINOBLASTOMA – FAMILIAL INCIDENCE, CYTOGENETIC STUDY AND SPINAL FLUID AND BONE MARROW EXAMINATIONS

Characterization of marker chromosomes using molecular cytogenetic methods in patients with mental retardation and congenital malformations

Genetic counselling in carriers of reciprocal chromosomal translocations involving short arm of chromosome X

FRAX calculator and Garvan nomogram in male osteoporotic population

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