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Characterization of 28 novel patients expands the mutational and phenotypic spectrum of Lowe syndrome

Pediatric nephrology (Berlin, West), 2015-06, Vol.30 (6), p.931-943

2015

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Clinical characteristics of Polish patients with molecularly confirmed Mowat-Wilson syndrome

Journal of applied genetics, 2021-09, Vol.62 (3), p.477-485

2021

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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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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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Congenital disorder of glycosylphosphatidylinositol (GPI)-anchor biosynthesis—The phenotype of two patients with novel mutations in the PIGN and PGAP2 genes

European journal of paediatric neurology, 2016-05, Vol.20 (3), p.462-473

2016

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Novel variant in HDAC8 gene resulting in the severe Cornelia de Lange phenotype

Clinical dysmorphology, 2019-07, Vol.28 (3), p.126-128

2019

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Thyroid hormone resistance syndrome due to mutations in the thyroid hormone receptor α gene (THRA)

Journal of medical genetics, 2015-05, Vol.52 (5), p.312-316

2015

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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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Cryptic X; Autosome Translocation in a Boy—Delineation of the Phenotype

Pediatric neurology, 2011-03, Vol.44 (3), p.221-224

2011

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Four novel RSK2 mutations in females with Coffin–Lowry syndrome

European journal of medical genetics, 2010-09, Vol.53 (5), p.268-273

2010

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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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History and molecular characteristics of a patient with terminal deletion of 14q. Is this another syndrome with a striking phenotype?

Clinical dysmorphology, 2012-04, Vol.21 (2), p.97-100

2012

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The natural history of SCO2 deficiency in 36 Polish children confirmed the genotype-phenotype correlation

Mitochondrion, 2013-11, Vol.13 (6), p.810-816

2013

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Malan syndrome (Sotos syndrome 2) in two patients with 19p13.2 deletion encompassing NFIX gene and novel NFIX sequence variant

Biomedical papers of the Medical Faculty of the University Palacký, Olomouc, Czechoslovakia, 2016-03, Vol.160 (1), p.161-167

2016

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Novel pathogenic variant in the HRAS gene with lethal outcome and a broad phenotypic spectrum among Polish patients with Costello syndrome

Clinical dysmorphology, 2017-04, Vol.26 (2), p.83-90

2017

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Is diagnosing cardio-facio-cutaneous (CFC) syndrome still a challenge? Delineation of the phenotype in 15 Polish patients with proven mutations, including novel mutations in the BRAF1 gene

European journal of medical genetics, 2015-01, Vol.58 (1), p.14-20

2015

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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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Parental mosaicism of JAG1 mutations in families with Alagille syndrome

European journal of human genetics : EJHG, 2001-03, Vol.9 (3), p.209-216

2001

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Further delineation of the classical Smith-Lemli-Opitz syndrome phenotype at different patient ages: clinical and biochemical studies

Clinical dysmorphology, 1999-01, Vol.8 (1), p.29-40

1999

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Zespół Wolfa i Hirschhorna – charakterystyka kliniczna oparta na 12 przypadkach

Pediatria polska, 2007, Vol.82 (11), p.846-853

2007

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Characterization of 28 novel patients expands the mutational and phenotypic spectrum of Lowe syndrome

Clinical characteristics of Polish patients with molecularly confirmed Mowat-Wilson syndrome

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

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

Congenital disorder of glycosylphosphatidylinositol (GPI)-anchor biosynthesis—The phenotype of two patients with novel mutations in the PIGN and PGAP2 genes

Novel variant in HDAC8 gene resulting in the severe Cornelia de Lange phenotype

Thyroid hormone resistance syndrome due to mutations in the thyroid hormone receptor α gene (THRA)

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

Cryptic X; Autosome Translocation in a Boy—Delineation of the Phenotype

Four novel RSK2 mutations in females with Coffin–Lowry syndrome

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

History and molecular characteristics of a patient with terminal deletion of 14q. Is this another syndrome with a striking phenotype?

The natural history of SCO2 deficiency in 36 Polish children confirmed the genotype-phenotype correlation

Malan syndrome (Sotos syndrome 2) in two patients with 19p13.2 deletion encompassing NFIX gene and novel NFIX sequence variant

Novel pathogenic variant in the HRAS gene with lethal outcome and a broad phenotypic spectrum among Polish patients with Costello syndrome

Is diagnosing cardio-facio-cutaneous (CFC) syndrome still a challenge? Delineation of the phenotype in 15 Polish patients with proven mutations, including novel mutations in the BRAF1 gene

Phenotype and genotype in Nicolaides-Baraitser syndrome

Parental mosaicism of JAG1 mutations in families with Alagille syndrome

Further delineation of the classical Smith-Lemli-Opitz syndrome phenotype at different patient ages: clinical and biochemical studies

Zespół Wolfa i Hirschhorna – charakterystyka kliniczna oparta na 12 przypadkach

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