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11p15 duplication and 13q34 deletion with Beckwith–Wiedemann syndrome and factor VII deficiency

Pediatrics international, 2015-06, Vol.57 (3), p.486-491

2015

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1.15 Mb microdeletion in chromosome band 20p13 associated with moderate developmental delay—Additional case and data's review

American journal of medical genetics. Part A, 2013-01, Vol.161 (1), p.172-178

2013

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Minimal clinical findings in a patient with 15qter microdeletion syndrome: Delineation of the associated phenotype

American journal of medical genetics. Part A, 2012-04, Vol.158A (4), p.922-926

2012

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A comprehensive HADHA c.1528G>C frequency study reveals high prevalence of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency in Poland

Journal of inherited metabolic disease, 2010-12, Vol.33 (Suppl 3), p.373-377

2010

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Urgent metabolic service improves survival in long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency detected by symptomatic identification and pilot newborn screening

Journal of inherited metabolic disease, 2011-02, Vol.34 (1), p.185-195

2011

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Clinical heterogeneity of polish patients with KAT6B–related disorder

Molecular genetics & genomic medicine, 2023-12, Vol.11 (12), p.e2265-n/a

2023

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Differences between predicted and established diagnoses of Smith-Lemli-Opitz syndrome in the Polish population: underdiagnosis or loss of affected fetuses?

Journal of inherited metabolic disease, 2010-12, Vol.33 (Suppl 3), p.241-248

2010

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The phenotype‐driven computational analysis yields clinical diagnosis for patients with atypical manifestations of known intellectual disability syndromes

Molecular genetics & genomic medicine, 2020-09, Vol.8 (9), p.e1263-n/a

2020

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A novel IGF2/H19 domain triplication in the 11p15.5 imprinting region causing either Beckwith–Wiedemann or Silver–Russell syndrome in a single family

American journal of medical genetics. Part A, 2017-01, Vol.173 (1), p.72-78

2017

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Additional data on the clinical phenotype of Helsmoortel-Van der Aa syndrome associated with a novel truncating mutation in ADNP gene

American journal of medical genetics. Part A, 2016-06, Vol.170A (6), p.1647-1650

2016

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Twelve novel JAG1 gene mutations in polish Alagille syndrome patients

Human mutation, 2005-03, Vol.25 (3), p.321-321

2005

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The first case of a patient with de novo partial distal 16q tetrasomy and a data's review

American journal of medical genetics. Part A, 2014-10, Vol.164A (10), p.2541-2550

2014

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A girl with two syndromes: Turner syndrome and Costello syndrome. A case history

American journal of medical genetics. Part A, 2012-06, Vol.158A (6), p.1486-1488

2012

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Coffin-Siris Syndrome and the BAF Complex: Genotype-Phenotype Study in 63 Patients

Human mutation, 2013-11, Vol.34 (11), p.1519-1528

2013

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1.15Mb microdeletion in chromosome band 20p13 associated with moderate developmental delay--Additional case and data's review

American journal of medical genetics. Part A, 2013-01, Vol.161 (1), p.172-178

2013

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The ARID1B phenotype: What we have learned so far

American journal of medical genetics. Part C, Seminars in medical genetics, 2014-09, Vol.166C (3), p.276-289

2014

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Phenotype and genotype in Nicolaides-Baraitser syndrome

American journal of medical genetics. Part C, Seminars in medical genetics, 2014-09, Vol.166C (3), p.302-314

2014

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A case of Prader - Willi syndrome arising as a result of familial unbalanced translocation t(11;15)(q25;q13)

Clinical genetics, 1998-07, Vol.54 (1), p.60-64

1998

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11p15 duplication and 13q34 deletion with B eckwith– W iedemann syndrome and factor VII deficiency

Pediatrics international, 2015-06, Vol.57 (3), p.486-491

2015

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Twelve novel JAG1 gene mutations in polish Alagille syndrome patients: MUTATIONS IN BRIEF

Human mutation, 2005-03, Vol.25 (3), p.321-321

2005

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Alagille syndrome associated with a paracentric inversion 20p12.2p13 disrupting the JAG1 gene

American journal of medical genetics, 2001-10, Vol.103 (2), p.166-171

2001

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Additional data on the clinical phenotype of Helsmoortel-Van der Aa syndrome associated with a novel truncating mutation in ADNP gene

American journal of medical genetics. Part A, 2016, Vol.170 (6), p.1647-1650

2016

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11p15 duplication and 13q34 deletion with Beckwith–Wiedemann syndrome and factor VII deficiency

1.15 Mb microdeletion in chromosome band 20p13 associated with moderate developmental delay—Additional case and data's review

Minimal clinical findings in a patient with 15qter microdeletion syndrome: Delineation of the associated phenotype

A comprehensive HADHA c.1528G>C frequency study reveals high prevalence of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency in Poland

Urgent metabolic service improves survival in long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency detected by symptomatic identification and pilot newborn screening

Clinical heterogeneity of polish patients with KAT6B–related disorder

Differences between predicted and established diagnoses of Smith-Lemli-Opitz syndrome in the Polish population: underdiagnosis or loss of affected fetuses?

The phenotype‐driven computational analysis yields clinical diagnosis for patients with atypical manifestations of known intellectual disability syndromes

A novel IGF2/H19 domain triplication in the 11p15.5 imprinting region causing either Beckwith–Wiedemann or Silver–Russell syndrome in a single family

Additional data on the clinical phenotype of Helsmoortel-Van der Aa syndrome associated with a novel truncating mutation in ADNP gene

Twelve novel JAG1 gene mutations in polish Alagille syndrome patients

The first case of a patient with de novo partial distal 16q tetrasomy and a data's review

Carrier frequency of mutation 657del5 in the NBS1 gene in a population of polish pediatric patients with sporadic lymphoid malignancies

A girl with two syndromes: Turner syndrome and Costello syndrome. A case history

Coffin-Siris Syndrome and the BAF Complex: Genotype-Phenotype Study in 63 Patients

No Evidence for Association of SCO2 Heterozygosity with High-Grade Myopia or Other Diseases with Possible Mitochondrial Dysfunction

1.15Mb microdeletion in chromosome band 20p13 associated with moderate developmental delay--Additional case and data's review

The ARID1B phenotype: What we have learned so far

Phenotype and genotype in Nicolaides-Baraitser syndrome

A case of Prader - Willi syndrome arising as a result of familial unbalanced translocation t(11;15)(q25;q13)

11p15 duplication and 13q34 deletion with B eckwith– W iedemann syndrome and factor VII deficiency

Twelve novel JAG1 gene mutations in polish Alagille syndrome patients: MUTATIONS IN BRIEF

Alagille syndrome associated with a paracentric inversion 20p12.2p13 disrupting the JAG1 gene

Carrier frequency of mutation 657de15 in the NBS1 gene in a population of Polish pediatric patients with sporadic lymphoid malignancies

Additional data on the clinical phenotype of Helsmoortel-Van der Aa syndrome associated with a novel truncating mutation in ADNP gene

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