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1
Brainstem dysgenesis: beyond Moebius syndrome
Brainstem dysgenesis: beyond Moebius syndrome
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Brainstem dysgenesis: beyond Moebius syndrome

Revista de neurologiá, 2018-04, Vol.66 (7), p.241-250 [Peer Reviewed Journal]

EISSN: 1576-6578 ;DOI: 10.33588/rn.6607.2017273 ;PMID: 29557550

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2
Joubert syndrome: incidence and clinicoradiological description of a genotyped series of seven cases
Joubert syndrome: incidence and clinicoradiological description of a genotyped series of seven cases
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Joubert syndrome: incidence and clinicoradiological description of a genotyped series of seven cases

Revista de neurologiá, 2021-08, Vol.73 (4), p.115-120 [Peer Reviewed Journal]

EISSN: 1576-6578 ;DOI: 10.33588/rn.7304.2021066 ;PMID: 34308544

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3
22q11.2 deletion syndrome: 20 years of experience from two pediatric immunology units and review of clues for diagnosis and disease management
22q11.2 deletion syndrome: 20 years of experience from two pediatric immunology units and review of clues for diagnosis and disease management
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22q11.2 deletion syndrome: 20 years of experience from two pediatric immunology units and review of clues for diagnosis and disease management

Allergologia et immunopathologia, 2021-01, Vol.49 (1), p.95-100 [Peer Reviewed Journal]

2021. This work is published under https://creativecommons.org/licenses/by-nc-nd/4.0/ (the “License”). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License. ;ISSN: 0301-0546 ;EISSN: 1578-1267 ;DOI: 10.15586/aei.v49i1.24 ;PMID: 33528935

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4
Update on the treatment of RASopathies
Update on the treatment of RASopathies
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Update on the treatment of RASopathies

Revista de neurologiá, 2017-05, Vol.64 (s03), p.S13-S17 [Peer Reviewed Journal]

EISSN: 1576-6578 ;PMID: 28524213

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5
Voice and speech of children with 22q11 deletion syndrome
Voice and speech of children with 22q11 deletion syndrome
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Voice and speech of children with 22q11 deletion syndrome

Revista de neurologiá, 2019-02, Vol.68 (3), p.99-106 [Peer Reviewed Journal]

EISSN: 1576-6578 ;DOI: 10.33588/rn.6803.2018279 ;PMID: 30687916

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6
Warsaw breakage syndrome: an etiology for congenital microcephaly and sensorineural deafness
Warsaw breakage syndrome: an etiology for congenital microcephaly and sensorineural deafness
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Warsaw breakage syndrome: an etiology for congenital microcephaly and sensorineural deafness

Revista de neurologiá, 2023-02, Vol.76 (3), p.111 [Peer Reviewed Journal]

EISSN: 1576-6578 ;DOI: 10.33588/rn.7603.2022165 ;PMID: 36703504

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7
Wolf-Hirschhorn syndrome. Description of a Spanish cohort of 51 cases and a literature review
Wolf-Hirschhorn syndrome. Description of a Spanish cohort of 51 cases and a literature review
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Wolf-Hirschhorn syndrome. Description of a Spanish cohort of 51 cases and a literature review

Revista de neurologiá, 2017-05, Vol.64 (9), p.393-400 [Peer Reviewed Journal]

EISSN: 1576-6578 ;DOI: 10.33588/rn.6409.2016414 ;PMID: 28444681

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8
Mayer-Rokitansky-Küster-Hauser syndrome. A report of two cases
Mayer-Rokitansky-Küster-Hauser syndrome. A report of two cases
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Mayer-Rokitansky-Küster-Hauser syndrome. A report of two cases

Ginecologia y obstetricia de Mexico, 2012-10, Vol.80 (10), p.663-667

ISSN: 0300-9041 ;PMID: 23240231

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9
Herlyn-Werner-Wunderlich syndromne: case review and report of the literature
Herlyn-Werner-Wunderlich syndromne: case review and report of the literature
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Herlyn-Werner-Wunderlich syndromne: case review and report of the literature

Revista colombiana de obstetricia y ginecología, 2021-12, Vol.72 (4), p.407-422 [Peer Reviewed Journal]

Copyright (c) 2021 Revista Colombiana de Obstetricia y Ginecología ;EISSN: 2463-0225 ;DOI: 10.18597/rcog.3699 ;PMID: 35134287

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10
A phenotypic description of 26 patients with Ritscher-Schinzel syndrome (cranio-cerebello-cardiac dysplasia or 3C syndrome)
A phenotypic description of 26 patients with Ritscher-Schinzel syndrome (cranio-cerebello-cardiac dysplasia or 3C syndrome)
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A phenotypic description of 26 patients with Ritscher-Schinzel syndrome (cranio-cerebello-cardiac dysplasia or 3C syndrome)

Revista de neurologiá, 2017-06, Vol.64 (11), p.481-488 [Peer Reviewed Journal]

EISSN: 1576-6578 ;DOI: 10.33588/rn.6411.2016469 ;PMID: 28555453

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11
A Silent Pulmonary Agenesis
A Silent Pulmonary Agenesis
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A Silent Pulmonary Agenesis

Archivos de bronconeumología, 2023-03, Vol.59 (3), p.173-173 [Peer Reviewed Journal]

2022 SEPAR ;ISSN: 0300-2896 ;DOI: 10.1016/j.arbres.2022.11.012

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12
Anomalous origin of the right pulmonary artery from the ascending aorta associated with aortopulmonary window
Anomalous origin of the right pulmonary artery from the ascending aorta associated with aortopulmonary window
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Anomalous origin of the right pulmonary artery from the ascending aorta associated with aortopulmonary window

Gaceta médica de México, 2016-01, Vol.152 (1), p.116-119 [Peer Reviewed Journal]

ISSN: 0016-3813 ;PMID: 26927652

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13
Psychological and cognitive evaluation of autism in a patient with MOMO syndrome: a case report and literature review
Psychological and cognitive evaluation of autism in a patient with MOMO syndrome: a case report and literature review
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Psychological and cognitive evaluation of autism in a patient with MOMO syndrome: a case report and literature review

Medwave, 2019-05, Vol.19 (4), p.e7622-e7621

ISSN: 0717-6384 ;EISSN: 0717-6384 ;DOI: 10.5867/medwave.2019.04.7621 ;PMID: 31075093

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14
A new case of a rare anomaly of the biliary tract
A new case of a rare anomaly of the biliary tract
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A new case of a rare anomaly of the biliary tract

Revista de gastroenterología de México, 2011-10, Vol.76 (4), p.380-383 [Peer Reviewed Journal]

ISSN: 0375-0906 ;PMID: 22188967

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15
Sirenomelia apus. Case report
Sirenomelia apus. Case report
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Sirenomelia apus. Case report

Ginecologia y obstetricia de Mexico, 2011-08, Vol.79 (8), p.501-507

ISSN: 0300-9041 ;PMID: 21966849

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16
Unilateral persistent fetal vasculature coexisting with anterior segment dysgenesia
Unilateral persistent fetal vasculature coexisting with anterior segment dysgenesia
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Unilateral persistent fetal vasculature coexisting with anterior segment dysgenesia

Archivos de la Sociedad Española de Oftalmología, 2017-01, Vol.92 (1), p.40-43

Copyright © 2016 Sociedad Española de Oftalmología. Publicado por Elsevier España, S.L.U. All rights reserved. ;EISSN: 1989-7286 ;DOI: 10.1016/j.oftal.2016.03.021 ;PMID: 27230591

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17
Neurotrophic keratopathy secondary to trigeminal nerve aplasia in patient with Goldenhar syndrome
Neurotrophic keratopathy secondary to trigeminal nerve aplasia in patient with Goldenhar syndrome
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Neurotrophic keratopathy secondary to trigeminal nerve aplasia in patient with Goldenhar syndrome

Archivos de la Sociedad Española de Oftalmología, 2016-04, Vol.91 (4), p.191-194

Copyright © 2015 Sociedad Española de Oftalmología. Published by Elsevier España, S.L.U. All rights reserved. ;EISSN: 1989-7286 ;DOI: 10.1016/j.oftal.2015.12.011 ;PMID: 26819096

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18
Surgical management of spinal deformity in a patient with Escobar syndrome: review of the literature
Surgical management of spinal deformity in a patient with Escobar syndrome: review of the literature
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Surgical management of spinal deformity in a patient with Escobar syndrome: review of the literature

Acta ortopédica mexicana, 2016-07, Vol.30 (4), p.196-200

ISSN: 2306-4102 ;PMID: 28267910

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19
Obstructed hemivagina and ipsilateral renal anomaly: unusual cause of piocolpos. Report a case and review of literature
Obstructed hemivagina and ipsilateral renal anomaly: unusual cause of piocolpos. Report a case and review of literature
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Obstructed hemivagina and ipsilateral renal anomaly: unusual cause of piocolpos. Report a case and review of literature

Ginecologia y obstetricia de Mexico, 2014-10, Vol.82 (10), p.711-715

ISSN: 0300-9041 ;PMID: 25510063

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20
Molecular characterisation and phenotypic description of two patients with reciprocal chromosomal aberrations in the region of the 3q29 microdeletion/microduplication syndromes
Molecular characterisation and phenotypic description of two patients with reciprocal chromosomal aberrations in the region of the 3q29 microdeletion/microduplication syndromes
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Molecular characterisation and phenotypic description of two patients with reciprocal chromosomal aberrations in the region of the 3q29 microdeletion/microduplication syndromes

Revista de neurologiá, 2015-09, Vol.61 (6), p.255-260 [Peer Reviewed Journal]

EISSN: 1576-6578 ;DOI: 10.33588/rn.6106.2015093 ;PMID: 26350776

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