| Nome |
# |
|
Dilated azygos arch mimicking an aortic arch anomaly during thoracic surgery, file e3ad891b-5170-da0e-e053-3705fe0a2b96
|
295
|
|
ASFISSIA PERINATALE:VALUTAZIONE CLINICO-EPIDEMIOLOGICA IN UN CAMPIONE DI NEONATI DI ≥ 34 SEG, file e3ad891b-c2ea-da0e-e053-3705fe0a2b96
|
245
|
|
Coronary Artery Fistula in Down Syndrome: A Hidden Association, file e3ad891b-6ece-da0e-e053-3705fe0a2b96
|
227
|
|
Novel LRPPRC compound heterozygous mutation in a child with early-onset Leigh syndrome French-Canadian type: Case report of an Italian patient, file e3ad8923-54e7-da0e-e053-3705fe0a2b96
|
213
|
|
IPOGLICEMIA NEONATALE: RILIEVI EPIDEMIOLOGICI IN UN CAMPIONE DI NEONATI RICOVERATI (2012-2017), file e3ad891b-c48b-da0e-e053-3705fe0a2b96
|
212
|
|
Autosomal recessive polycystic kidney disease: case report of a newborn with rare PKHD1 mutation, rapid renal enlargement and early fatal outcome, file e3ad8923-4c1d-da0e-e053-3705fe0a2b96
|
204
|
|
2q13 microdeletion syndrome: Report on a newborn with additional features expanding the phenotype, file e3ad8927-1704-da0e-e053-3705fe0a2b96
|
189
|
|
Fetal growth restriction: A growth pattern with fetal, neonatal and long-term consequences, file e3ad891f-e8b8-da0e-e053-3705fe0a2b96
|
181
|
|
An unusual association of left-sided gastroschisis and persistent right umbilical vein, file e3ad891e-bb84-da0e-e053-3705fe0a2b96
|
168
|
|
Clinical cardiac assessment in newborns with prenatally diagnosed intrathoracic masses, file e3ad891f-0b4c-da0e-e053-3705fe0a2b96
|
156
|
|
Growth patterns and associated risk factors of congenital malformations in twins, file e3ad8922-64b1-da0e-e053-3705fe0a2b96
|
143
|
|
ENCEFALOPATIA NEONATALE. IL RUOLO DELLA INFEZIONE. ANALISI DI UN CAMPIONE DI 1107 NEONATI RICOVERATI IN UTIN E TERAPIA SEMINTENSIVA, file e3ad891b-df98-da0e-e053-3705fe0a2b96
|
99
|
|
Recognizable neonatal clinical features of aplasia cutis congenita, file e3ad8921-8952-da0e-e053-3705fe0a2b96
|
99
|
|
Neonatal hyperinsulinemic hypoglycemia: Case report of kabuki syndrome due to a novel KMT2D splicing-site mutation, file e3ad8923-0df4-da0e-e053-3705fe0a2b96
|
99
|
|
Neonatal ten-year retrospective study on neural tube defects in a second level University Hospital, file e3ad8922-630d-da0e-e053-3705fe0a2b96
|
96
|
|
Total colonic aganglionosis and cleft palate in a newborn with Janus-cysteine 618 mutation of RET proto-oncogene: A case report, file e3ad8922-fd95-da0e-e053-3705fe0a2b96
|
71
|
|
Novel missense mutation of the TP63 gene in a newborn with Hay-Wells/Ankyloblepharon-Ectodermal defects-Cleft lip/palate (AEC) syndrome: clinical report and follow-up, file e3ad8927-39eb-da0e-e053-3705fe0a2b96
|
60
|
|
Necrotizing enterocolitis in the preterm: newborns medical and nutritional Management in a Single-Center Study, file e3ad8927-6d89-da0e-e053-3705fe0a2b96
|
47
|
|
Assessment of Cardiac funcionality in term newborns born to diabetic mothers, file e3ad891b-a9c6-da0e-e053-3705fe0a2b96
|
38
|
|
Microcephaly and macrocephaly. A study on anthropometric and clinical data from 308 subjects, file e3ad8921-36ce-da0e-e053-3705fe0a2b96
|
24
|
|
LARGE FOR GESTATIONAL AGE, MACROSOMIA, OVERGROWTH: AN UPDATE ON
DEFINITIONS AND DETERMINANTS, file e3ad8922-c70b-da0e-e053-3705fe0a2b96
|
22
|
|
Hypertrophic pyloric stenosis masked by kidney failure in a male infant with a contiguous gene deletion syndrome at Xp22.31 involving the steroid sulfatase gene: case report, file e3ad8927-8f92-da0e-e053-3705fe0a2b96
|
16
|
|
Interstitial deletions of chromosome 1p: novel 1p31.3p22.2 microdeletion in a newborn with craniosynostosis, coloboma and cleft palate, and review of the genomic and phenotypic profiles, file e3ad8928-2df5-da0e-e053-3705fe0a2b96
|
14
|
|
Congenital hypopituitarism and multiple midline defects in a newborn with non-familial Cat Eye syndrome, file 65e5e020-1a6f-45f3-b527-49ee5a44c0a6
|
11
|
|
Intestinal malrotation in a female newborn affected by Osteopathia Striata with Cranial Sclerosis due to a de novo heterozygous nonsense mutation of the AMER1 gene, file ca69d97b-3150-446b-9e67-e8256463b68c
|
10
|
|
Distal Arthrogryposis type 5 in an Italian family due to an autosomal dominant gain-of-function mutation of the PIEZO2 gene, file 0b065263-e88a-4765-bcb7-b146c25c1d54
|
9
|
|
Novel de novo missense mutation in the interferon regulatory factor 6 gene in an Italian infant with IRF6-related disorder, file 4eab4bb5-8eb6-46bd-ab0c-be72ee4f3f7a
|
9
|
|
The child with overgrowth between clinical variability and genetic heterogeneity, file e3ad8922-4b67-da0e-e053-3705fe0a2b96
|
9
|
|
Novel mutations of the ABCA12, KRT1 and ST14 genes in three unrelated newborns showing congenital ichthyosis, file 8cbdca76-325c-492b-b479-ed7f48152d37
|
8
|
|
New insights on partial trisomy 3q syndrome: de novo 3q27.1-q29 duplication in a newborn with pre and postnatal overgrowth and assisted reproductive conception, file ceaf3e5f-9ffe-41a0-a026-bcf451c36233
|
8
|
|
Congenital syphilis in a preterm newborn with gastrointestinal disorders and postnatal growth restriction, file cc842d1c-243d-4679-9bdb-7358a1167448
|
7
|
|
Congenital pelvic skeletal anomalies: Clinical and radiographic evaluation of newborns with gastrointestinal malformation, file e3ad8920-6c9b-da0e-e053-3705fe0a2b96
|
7
|
|
A refugee newborn with heart failure and initial hydrops: Diagnostic clues of spectral Doppler examinations, file e3ad8922-ab68-da0e-e053-3705fe0a2b96
|
7
|
|
The impact of genetic diseases on neonatal and pediatric care, file e3ad8921-43f2-da0e-e053-3705fe0a2b96
|
6
|
|
null, file e3ad891b-ac01-da0e-e053-3705fe0a2b96
|
5
|
|
Infant developmental profile of Crisponi syndrome due to compound heterozygosity for CRLF1 deletion, file e3ad8922-2c25-da0e-e053-3705fe0a2b96
|
5
|
|
Transitional hemodynamics in infants of diabetic mothers by targeted neonatal echocardiography, electrocardiography and peripheral flow study, file e3ad8922-3218-da0e-e053-3705fe0a2b96
|
5
|
|
Genotyping and antifungal susceptibility of Dipodascus capitatus isolated in a neonatal intensive care unit of a sicilian hospital, file e3ad891b-d0b7-da0e-e053-3705fe0a2b96
|
4
|
|
null, file e3ad891b-e426-da0e-e053-3705fe0a2b96
|
4
|
|
Neonatal deficiency: Congenital skin aplasia, file e3ad8922-3ecc-da0e-e053-3705fe0a2b96
|
4
|
|
Report and follow-up on two new patients with congenital mesoblastic nephroma, file b4097602-166e-4658-9a83-db3f9f0ffddd
|
3
|
|
A Case of Cardiomyopathy Due to Premature Ductus Arteriosus Closure: The Flip Side of Paracetamol, file e3ad891f-0b5c-da0e-e053-3705fe0a2b96
|
3
|
|
Il neonato a colori: rosso
A proposito di “eritrodermia ittiosiforme congenita”, file 53153500-1d9b-4fce-ae58-3430c6c818a1
|
2
|
|
Il neonato a colori: le sfumature di grigio, file 62df3b93-93a0-4342-ab35-af172c5b8710
|
2
|
|
Lacune neonatali: l’aplasia cutis congenita, file bf60e163-6b76-41b9-aebc-5b9c20e55f09
|
2
|
|
Methemoglobinemia Associated with Late-Onset Neonatal Sepsis: A Single-Center Experience, file e3ad8922-97d2-da0e-e053-3705fe0a2b96
|
2
|
|
Clinical and genetic approach in the characterization of newborns with anorectal malformation, file e3ad8926-af14-da0e-e053-3705fe0a2b96
|
2
|
|
Il neonato a colori: nero a metà, file 5f8c74a6-528c-429c-ae81-441e6f37ba63
|
1
|
|
Il neonato a colori: bianco, file 87d2540a-3c5b-463c-bc19-b62ea6ba4199
|
1
|
|
Il neonato a colori: blu, giallo-verde, file 9912fcd7-dde6-4df4-94d3-0b297b76ef6e
|
1
|
|
Il neonato a colori: a strisce colorate (Arlecchino), file c23f59bd-f036-466c-bdf2-cc3cc0991f72
|
1
|
|
Transitional hemodynamics in infants of diabetic mothers by targeted neonatal echocardiography, electrocardiography and peripheral flow study, file e3ad8926-6bf0-da0e-e053-3705fe0a2b96
|
1
|
| Totale |
3.057 |