Suchergebnisse - "Moutard, M L"

PubPharm (13)

1

Prenatal abnormal features of the fourth ventricle in Joubert syndrome and related disorders

enthalten in: Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology | 2014

von Quarello, E. | Molho, M. | Garel, C. | +6

2

Fetal intracerebral hemorrhage and COL4A1 mutation : promise and uncertainty

enthalten in: Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology | 2013

von Garel, C. | Rosenblatt, J. | Moutard, M. | +5

3

Prenatal diagnosis of 18q-syndrome : a case of fetal mosaicism with a normal karyotype in chorionic villi

enthalten in: Fetal diagnosis and therapy | 2010

von Anselem, O. | Bazin, A. | Mechler, C. | +5

4

Prenatal and postnatal follow-up of a fetal interhemispheric arachnoid cyst with partial corpus callosum agenesis, asymmetric ventriculomegaly and localized polymicrogyria. Case report

enthalten in: Fetal diagnosis and therapy | 2008

von Fuchs, F. | Moutard, M. | Blin, G. | +2

5

Infantile spasms with basal ganglia MRI hypersignal may reveal mitochondrial disorder due to T8993G MT DNA mutation

enthalten in: Neuropediatrics | 2003

von Desguerre, I. | Pinton, F. | Nabbout, R. | +5

6

doublecortin is the major gene causing X-linked subcortical laminar heterotopia (SCLH)

enthalten in: Human molecular genetics | 1998

von des Portes, V. | Francis, F. | Pinard, J. | +13

7

Inherited microdeletion in Xp21.3-22.1 involved in non-specific mental retardation

enthalten in: Clinical genetics | 1998

von des Portes, V. | Carrié, A. | Billuart, P. | +8

8

Dominant X linked subcortical laminar heterotopia and lissencephaly syndrome (XSCLH/LIS) : evidence for the occurrence of mutation in males and mapping of a potential locus in Xq22

enthalten in: Journal of medical genetics | 1997

von des Portes, V. | Pinard, J. | Smadja, D. | +14

9

A near homoplasmic T8993G mtDNA mutation in a patient with atypic Leigh syndrome not present in the mother's tissues

enthalten in: Journal of inherited metabolic disease | 1997

von Degoul, F. | François, D. | Diry, M. | +5

10

Use of intravenous midazolam in status epilepticus in children

enthalten in: Archives de pediatrie : organe officiel de la Societe francaise de pediatrie | 1995

von Lemerle, J. | Daoud, P. | Moutard, M. | +2