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1 . Academic Journal
Case Report: Adenosine kinase deficiency diagnosed 10 years after liver transplantation: Novel phenotypic insights
저자
by
Patryk Lipiński
;
Elżbieta Ciara
;
Dorota Jurkiewicz
;
Maciej Pronicki
;
Elżbieta Jurkiewicz
, et al.
소스
Frontiers in Pediatrics, Vol 10 (2022)
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7 . Academic Journal
DCDC2-Related Ciliopathy: Report of Six Polish Patients, Novel DCDC2 Variant, and Literature Review of Reported Cases
저자
by
Patryk Lipiński
;
Elżbieta Ciara
;
Dorota Jurkiewicz
;
Magda Mekrouda
;
Joanna Cielecka-Kuszyk
, et al.
소스
Diagnostics, Vol 13, Iss 11, p 1917 (2023)
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7 . Academic Journal
Progressive familial intrahepatic cholestasis type 3: Report of four clinical cases, novel ABCB4 variants and long-term follow-up
저자
by
Patryk Lipiński
;
Elżbieta Ciara
;
Dorota Jurkiewicz
;
Rafał Płoski
;
Marta Wawrzynowicz-Syczewska
, et al.
소스
Annals of Hepatology, Vol 25, Iss , Pp 100342- (2021)
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7 . Academic Journal
Sterol 27-Hydroxylase Deficiency as a Cause of Neonatal Cholestasis: Report of 2 Cases and Review of the Literature
저자
by
Patryk Lipiński
;
Maja Klaudel-Dreszler
;
Elzbieta Ciara
;
Dorota Jurkiewicz
;
Rafał Płoski
, et al.
소스
Frontiers in Pediatrics, Vol 8 (2021)
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7 . Academic Journal
Occurrence of Portal Hypertension and Its Clinical Course in Patients With Molecularly Confirmed Autosomal Recessive Polycystic Kidney Disease (ARPKD)
저자
by
Dorota Wicher
;
Ryszard Grenda
;
Mikołaj Teisseyre
;
Marek Szymczak
;
Paulina Halat-Wolska
, et al.
소스
Frontiers in Pediatrics, Vol 8 (2020)
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7 . Academic Journal
The phenotype‐driven computational analysis yields clinical diagnosis for patients with atypical manifestations of known intellectual disability syndromes
저자
by
Aleksandra Jezela‐Stanek
;
Elżbieta Ciara
;
Dorota Jurkiewicz
;
Marzena Kucharczyk
;
Maria Jędrzejowska
, et al.
소스
Molecular Genetics & Genomic Medicine, Vol 8, Iss 9, Pp n/a-n/a (2020)
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7 . Academic Journal
Targeted Next-Generation Sequencing in Diagnostic Approach to Monogenic Cholestatic Liver Disorders—Single-Center Experience
저자
by
Patryk Lipiński
;
Elżbieta Ciara
;
Dorota Jurkiewicz
;
Agnieszka Pollak
;
Maria Wypchło
, et al.
소스
Frontiers in Pediatrics, Vol 8 (2020)
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7 . Academic Journal
Malan syndrome (Sotos syndrome 2) in two patients with 19p13.2 deletion encompassing NFIX gene and novel NFIX sequence variant
저자
by
Aleksandra Jezela-Stanek
;
Marzena Kucharczyk
;
Katarzyna Falana
;
Dorota Jurkiewicz
;
Marlena Mlynek
, et al.
소스
Biomedical Papers, Vol 160, Iss 1, Pp 161-167 (2016)
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7 .
DNA methylation as an epigenetic biomarker in imprinting disorders
저자
by
Krystyna H. Chrzanowska
;
Elżbieta Ciara
;
Dorota Jurkiewicz
;
Małgorzata Krajewska-Walasek
.
소스
Postępy Higieny i Medycyny Doświadczalnej, Vol 74, Pp 532-540 (2020)
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6 .
Rare clinical findings in three sporadic cases of Beckwith-Wiedemann syndrome due to novel mutations in the CDKN1C gene
저자
by
Krystyna H. Chrzanowska
;
Magdalena Pelc
;
Dorota Jurkiewicz
;
Małgorzata Krajewska-Walasek
;
Elżbieta Ciara
, et al.
소스
Clinical Dysmorphology
. 29:28-34
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