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Items: 1 to 20 of 928

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Select item 31686460 1.

Autosomal recessive Alport syndrome caused by a novel COL4A4 splice site mutation:
a case report.
Šenjug P, Nikuševa Martić T, Šenjug Perica M, Oroz M, Horaček M, Ćuk M, Abdović S,
Galešić Ljubanović D.
Croat Med J. 2019 Oct 31;60(5):458-462.
PMID:

31686460
Free PMC Article
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Select item 31636454 2.
Therapeutic inhibition of mTORC2 rescues the behavioral and neurophysiological
abnormalities associated with Pten-deficiency.
Chen CJ, Sgritta M, Mays J, Zhou H, Lucero R, Park J, Wang IC, Park JH, Kaipparettu
BA, Stoica L, Jafar-Nejad P, Rigo F, Chin J, Noebels JL, Costa-Mattioli M.
Nat Med. 2019 Nov;25(11):1684-1690. doi: 10.1038/s41591-019-0608-y. Epub 2019 Oct 21.
PMID:

31636454
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Select item 31603842 3.

[Malformations of cortical development and epilepsy].
Buompadre MC.
Medicina (B Aires). 2019;79 Suppl 3:37-41. Spanish.
PMID:

31603842
Free Article
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Select item 31603075 4.

Intermediate uveitis in a child with phosphatase and tensin homolog gene mutation and
Bannayan-Riley-Ruvalcaba syndrome.
Prat D, Ben Bassat Mizrachi I, Vishnevskia-Dai V.
BMJ Case Rep. 2019 Feb 12;12(2). pii: bcr-2017-224079. doi: 10.1136/bcr-2017-224079.
PMID:

31603075
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Select item 31577650 5.
Modified Bilateral Pi Craniectomy Technique for Reduction Cranioplasty: Novel
Technique.
Abuzayed B, Alawneh K, Qawasmeh MAL, Raffee L.
J Craniofac Surg. 2019 Nov-Dec;30(8):2593-2596. doi: 10.1097/SCS.0000000000005688.
PMID:

31577650
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Select item 31571601 6.

Remarkable recovery in an infant with brain abscesses.
Koko AM, Ismail NJ, Lasseini A, Shehu BB.
Lancet. 2019 Sep 28;394(10204):1191. doi: 10.1016/S0140-6736(19)32137-3. No abstract available.
PMID:

31571601
Similar articles

Select item 31476288 7.

Clinical features and molecular genetic analysis of thanatophoric dysplasia type I in a
neonate with a de novo c.2419 T > C (p. Ter807Arg) (X807R) mutation in FGFR3.
Jiang G, Chen X, Dai D, Cao L, Qian L.
Exp Mol Pathol. 2019 Dec;111:104297. doi: 10.1016/j.yexmp.2019.104297. Epub 2019 Aug 30.
PMID:

31476288
Similar articles
Select item 31451480 8.
An infant with epilepsy: don't forget the importance of skin examination.
Madaan P, Rao Pala N, Saini L.
BMJ Case Rep. 2019 Aug 26;12(8). pii: e231818. doi: 10.1136/bcr-2019-231818. No abstract available.
PMID:

31451480
Similar articles

Select item 31398970 9.

Bilateral Serous Retinal Detachment from Neonatal-Onset Multisystemic Inflammatory
Disorder.
Statler B, Chan T, Chen W, Snady-McCoy L, Janigian RH.
R I Med J (2013). 2019 Aug 1;102(6):47-49.
PMID:

31398970
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Select item 31336229 10.

Antenatal diagnosis of cardio-facio-cutaneous syndrome: Prenatal characteristics and
contribution of fetal facial dysmorphic signs in utero. About a case and review of
literature.
Biard JM, Steenhaut P, Bernard P, Race V, Sznajer Y.
Eur J Obstet Gynecol Reprod Biol. 2019 Sep;240:232-241. doi: 10.1016/j.ejogrb.2019.06.035. Epub 2019
Jul 16. Review.
PMID:

31336229
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Select item 31324307 11.
Fetal and neonatal neurogenetics.
Jansen AC, Keymolen K.
Handb Clin Neurol. 2019;162:105-132. doi: 10.1016/B978-0-444-64029-1.00005-9. Review.
PMID:

31324307
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Select item 31250618 12.

Neurodevelopmental Aspects of RASopathies.
Kim YE, Baek ST.
Mol Cells. 2019 Jun 30;42(6):441-447. doi: 10.14348/molcells.2019.0037. Review.
PMID:

31250618
Free PMC Article
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Select item 31146092 13.

Biallelic SZT2 mutation with early onset of focal status epilepticus: Useful diagnostic
clues other than epilepsy, intellectual disability and macrocephaly.
Iodice A, Spagnoli C, Frattini D, Salerno GG, Rizzi S, Fusco C.
Seizure. 2019 Jul;69:296-297. doi: 10.1016/j.seizure.2019.05.015. Epub 2019 May 19. No abstract
available.
PMID:

31146092
Similar articles
Select item 31111168 14.
[Syndromes with vascular skin anomalies].
Happle R.
Hautarzt. 2019 Jul;70(7):474-480. doi: 10.1007/s00105-019-4418-4. Review. German.
PMID:

31111168
Similar articles

Select item 31085733 15.

Teaching NeuroImages: A child with macrocephaly and psychomotor development
delay.
Rhouda H, Chat L, Kriouile Y.
Neurology. 2019 May 14;92(20):e2397-e2398. doi: 10.1212/WNL.0000000000007506. No abstract
available.
PMID:

31085733
Similar articles

Select item 31075093 16.

Psychological and cognitive evaluation of autism in a patient with MOMO syndrome: a
case report and literature review.
Passalacqua C, García M, Sepúlveda E, Toledo D, Valencia M, Arancibia M.
Medwave. 2019 May 2;19(4):e7622. doi: 10.5867/medwave.2019.04.7621. Review. Spanish, English.
PMID:

31075093
Similar articles
Select item 31023604 17.
Risk Factors for Pathologic Macrocephaly in Children.
Sharawat IK, Dawman L.
Pediatr Neurol. 2019 Sep;98:93. doi: 10.1016/j.pediatrneurol.2019.02.022. Epub 2019 Mar 13. No
abstract available.
PMID:

31023604
Similar articles

Select item 31010437 18.

Autistic symptoms in Greig cephalopolysyndactyly syndrome: a family case report.
Siracusano M, Riccioni A, Baratta A, Baldi M, Curatolo P, Mazzone L.
J Med Case Rep. 2019 Apr 23;13(1):100. doi: 10.1186/s13256-019-2043-6.
PMID:

31010437
Free PMC Article
Similar articles

Select item 30995852 19.

Gorlin-Goltz syndrome.
Bartoš V, Kullová M, Adamicová K, Paučinová I.
Klin Onkol. 2019 Spring;32(2):124-128. doi: 10.14735/amko2019124.
PMID:

30995852
Similar articles
 Select item 30989705 20.
Sparing of the nipple-areola complex by capillary malformations: Vascular variant of the
Bork-Baykal phenomenon.
Knöpfel N, Theiler M, Rodríguez-Jiménez P, Happle R, Weibel L, Torrelo A.
Pediatr Dermatol. 2019 Jul;36(4):558-560. doi: 10.1111/pde.13844. Epub 2019 Apr 15.
PMID:

30989705
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