Detalles de la búsqueda
1.
Progressive familial intrahepatic cholestasis type 3: Report of four clinical cases, novel ABCB4 variants and long-term follow-up.
Ann Hepatol
; 25: 100342, 2021.
Artículo
en Inglés
| MEDLINE | ID: mdl-33757843
2.
A novel IGF2/H19 domain triplication in the 11p15.5 imprinting region causing either Beckwith-Wiedemann or Silver-Russell syndrome in a single family.
Am J Med Genet A
; 173(1): 72-78, 2017 Jan.
Artículo
en Inglés
| MEDLINE | ID: mdl-27612309
3.
11p15 duplication and 13q34 deletion with Beckwith-Wiedemann syndrome and factor VII deficiency.
Pediatr Int
; 57(3): 486-91, 2015 Jun.
Artículo
en Inglés
| MEDLINE | ID: mdl-26012727
4.
The effects of 3-year growth hormone treatment and body composition in Polish patients with Silver-Russell syndrome.
Endokrynol Pol
; 74(3): 285-293, 2023.
Artículo
en Inglés
| MEDLINE | ID: mdl-37335065
5.
DCDC2-Related Ciliopathy: Report of Six Polish Patients, Novel DCDC2 Variant, and Literature Review of Reported Cases.
Diagnostics (Basel)
; 13(11)2023 May 30.
Artículo
en Inglés
| MEDLINE | ID: mdl-37296768
6.
Clinical heterogeneity of polish patients with KAT6B-related disorder.
Mol Genet Genomic Med
; 11(12): e2265, 2023 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-37658610
7.
Case Report: Adenosine kinase deficiency diagnosed 10 years after liver transplantation: Novel phenotypic insights.
Front Pediatr
; 10: 1061043, 2022.
Artículo
en Inglés
| MEDLINE | ID: mdl-36589157
8.
Additional data on the clinical phenotype of Helsmoortel-Van der Aa syndrome associated with a novel truncating mutation in ADNP gene.
Am J Med Genet A
; 170(6): 1647-50, 2016 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-27031564
9.
X-linked hypophosphataemic rickets in children: clinical phenotype, therapeutic strategies, and molecular background.
Endokrynol Pol
; 72(2): 108-119, 2021.
Artículo
en Inglés
| MEDLINE | ID: mdl-33295632
10.
Genomic alterations in biliary atresia suggest region of potential disease susceptibility in 2q37.3.
Am J Med Genet A
; 152A(4): 886-95, 2010 Apr.
Artículo
en Inglés
| MEDLINE | ID: mdl-20358598
11.
A comprehensive HADHA c.1528G>C frequency study reveals high prevalence of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency in Poland.
J Inherit Metab Dis
; 33 Suppl 3: S373-7, 2010 Dec.
Artículo
en Inglés
| MEDLINE | ID: mdl-20814823
12.
Targeted Next-Generation Sequencing in Diagnostic Approach to Monogenic Cholestatic Liver Disorders-Single-Center Experience.
Front Pediatr
; 8: 414, 2020.
Artículo
en Inglés
| MEDLINE | ID: mdl-32793533
13.
Sterol 27-Hydroxylase Deficiency as a Cause of Neonatal Cholestasis: Report of 2 Cases and Review of the Literature.
Front Pediatr
; 8: 616582, 2020.
Artículo
en Inglés
| MEDLINE | ID: mdl-33520900
14.
The phenotype-driven computational analysis yields clinical diagnosis for patients with atypical manifestations of known intellectual disability syndromes.
Mol Genet Genomic Med
; 8(9): e1263, 2020 09.
Artículo
en Inglés
| MEDLINE | ID: mdl-32337850
15.
Rare clinical findings in three sporadic cases of Beckwith-Wiedemann syndrome due to novel mutations in the CDKN1C gene.
Clin Dysmorphol
; 29(1): 28-34, 2020 Jan.
Artículo
en Inglés
| MEDLINE | ID: mdl-31804259
16.
Occurrence of Portal Hypertension and Its Clinical Course in Patients With Molecularly Confirmed Autosomal Recessive Polycystic Kidney Disease (ARPKD).
Front Pediatr
; 8: 591379, 2020.
Artículo
en Inglés
| MEDLINE | ID: mdl-33282801
17.
Neonatal cholestasis due to citrin deficiency: diagnostic pitfalls.
Acta Biochim Pol
; 67(2): 225-228, 2020 May 21.
Artículo
en Inglés
| MEDLINE | ID: mdl-32436673
18.
Novel variant in HDAC8 gene resulting in the severe Cornelia de Lange phenotype.
Clin Dysmorphol
; 28(3): 126-130, 2019 Jul.
Artículo
en Inglés
| MEDLINE | ID: mdl-30921088
19.
Novel pathogenic variant in the HRAS gene with lethal outcome and a broad phenotypic spectrum among Polish patients with Costello syndrome.
Clin Dysmorphol
; 26(2): 83-90, 2017 Apr.
Artículo
en Inglés
| MEDLINE | ID: mdl-28027064
20.
Malan syndrome (Sotos syndrome 2) in two patients with 19p13.2 deletion encompassing NFIX gene and novel NFIX sequence variant.
Biomed Pap Med Fac Univ Palacky Olomouc Czech Repub
; 160(1): 161-7, 2016 Mar.
Artículo
en Inglés
| MEDLINE | ID: mdl-26927468