|
1
|
Mosaic overgrowth with fibroadipose hyperplasia is caused by somatic activating mutations in PIK3CA.
|
Nat Genet
|
2012
|
1.74
|
|
2
|
Copy-number disorders are a common cause of congenital kidney malformations.
|
Am J Hum Genet
|
2012
|
1.63
|
|
3
|
Clinical delineation and natural history of the PIK3CA-related overgrowth spectrum.
|
Am J Med Genet A
|
2014
|
1.20
|
|
4
|
Central precocious puberty that appears to be sporadic caused by paternally inherited mutations in the imprinted gene makorin ring finger 3.
|
J Clin Endocrinol Metab
|
2014
|
1.05
|
|
5
|
Atypical presentation of distal renal tubular acidosis in two siblings.
|
Pediatr Nephrol
|
2008
|
1.04
|
|
6
|
The impact of CFNS-causing EFNB1 mutations on ephrin-B1 function.
|
BMC Med Genet
|
2010
|
0.93
|
|
7
|
Long-acting pegylated human GH in children with GH deficiency: a single-dose, dose-escalation trial investigating safety, tolerability, pharmacokinetics and pharmacodynamics.
|
Eur J Endocrinol
|
2011
|
0.93
|
|
8
|
Clinical and functional characterization of URAT1 variants.
|
PLoS One
|
2011
|
0.92
|
|
9
|
Analysis of TSHZ2 and TSHZ3 genes in congenital pelvi-ureteric junction obstruction.
|
Nephrol Dial Transplant
|
2009
|
0.90
|
|
10
|
Clinical and laboratory features of Macedonian children with OCRL mutations.
|
Pediatr Nephrol
|
2011
|
0.78
|
|
11
|
Game-based peripheral biofeedback for stress assessment in children.
|
Pediatr Int
|
2009
|
0.78
|
|
12
|
Obesity in childhood and adolescence, genetic factors.
|
Prilozi
|
2013
|
0.78
|
|
13
|
Aseptic necrosis of both tali in a child with steroid-dependent nephrotic syndrome.
|
Nephrol Dial Transplant
|
2006
|
0.78
|
|
14
|
Nephrotic syndrome occurring during tiopronin treatment for cystinuria.
|
Eur J Pediatr
|
2010
|
0.77
|
|
15
|
Chronic kidney disease - pediatric risk factors.
|
Pril (Makedon Akad Nauk Umet Odd Med Nauki)
|
2016
|
0.77
|
|
16
|
Autoimmune thyroiditis and diabetes mellitus type 1 after long-term gonadotropin-releasing hormone agonist treatment for central precocious puberty: evolution or coincidence?
|
J Pediatr Endocrinol Metab
|
2010
|
0.77
|
|
17
|
QEEG characteristics and spectrum weighted frequency for children diagnosed as autistic spectrum disorder.
|
Nonlinear Biomed Phys
|
2010
|
0.76
|
|
18
|
Weight, height and puberty in a cohort of Macedonian girls.
|
Med Arh
|
2009
|
0.76
|
|
19
|
Nephrolithiasis and Nephrocalcinosis in Children - Metabolic and Genetic Factors.
|
Pediatr Endocrinol Rev
|
2015
|
0.75
|
|
20
|
Compound Galactosylceramidase Gene (GALC) Heterozygosity in a Boy with Infantile Krabbe Disease (KD).
|
Pril (Makedon Akad Nauk Umet Odd Med Nauki)
|
2015
|
0.75
|
|
21
|
Steroid Resistant Nephrotic Syndrome-Genetic Consideration.
|
Pril (Makedon Akad Nauk Umet Odd Med Nauki)
|
2015
|
0.75
|
|
22
|
Failure to thrive and nephrolithiasis in a boy with congenital cyanotic heart anomaly.
|
Pediatr Nephrol
|
2011
|
0.75
|
|
23
|
4th Rare Disease South Eastern Europe (See) Meeting Skopje, Macedonia (November 14th, 2015).
|
Pril (Makedon Akad Nauk Umet Odd Med Nauki)
|
2015
|
0.75
|
|
24
|
Some Psychological Aspects of T1DM in Children and Adolescents.
|
Pril (Makedon Akad Nauk Umet Odd Med Nauki)
|
2015
|
0.75
|
|
25
|
Tricho-rhino-phalangeal syndrome in a 13-year-old girl with chronic renal failure and severe growth retardation.
|
Ren Fail
|
2014
|
0.75
|
|
26
|
LHX4 Gene Alterations: Patient Report and Review of the Literature.
|
Pediatr Endocrinol Rev
|
2016
|
0.75
|
|
27
|
Autoimmune thyroiditis in a child with steroid-dependent nephrotic syndrome.
|
Eur J Pediatr
|
2008
|
0.75
|
|
28
|
Where are we now in the investigation of rare diseases in the Republic of Macedonia?
|
Prilozi
|
2014
|
0.75
|
|
29
|
Recurrent urinary tract infections in an infant with antenatal Bartter syndrome.
|
World J Pediatr
|
2010
|
0.75
|
|
30
|
New insights into septo-optic dysplasia.
|
Prilozi
|
2014
|
0.75
|
|
31
|
Kidney diseases in children - early diagnosis and prevention.
|
Pril (Makedon Akad Nauk Umet Odd Med Nauki)
|
2016
|
0.75
|