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Results:
1-10
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Results: 10
Authors:
CORMIERDAIRE V
WOLF C
LEMERRER M
NIVELON A
BONNEAU D
JOURNEL H
FELLMANN F
MUNNICH A
ROUX C
Citation: V. Cormierdaire et al., ABNORMAL CHOLESTEROL-BIOSYNTHESIS IN THE SMITH-LEMLI-OPITZ AND THE LETHAL ACRODYSGENITAL SYNDROMES, American journal of medical genetics, 68(3), 1997, pp. 2-2
Authors:
MATHIEU M
PIUSSAN C
THEPOT F
GOUGET A
LACOMBE D
PEDESPAN JM
SERVILLE F
FONTAN D
RUFFIE M
NIVELONCHEVALLIER A
AMBLARD F
CHAUVEAU P
MOIROT H
CHABROLLE JP
CROQUETTE MF
TEYSSIER M
PLAUCHU H
PELISSIER MC
GILGENKRANTZ S
TURCCAREL C
TURLEAU C
PRIEUR M
LEMERRER M
GONZALES M
JOYE N
TAILLEMITE JL
BOUILLIE J
ESCHARD C
MOTTE J
JOURNEL H
Citation: M. Mathieu et al., COLLABORATIVE STUDY OF MOSAIC TETRASOMY 12P OR PALLISTER-KILLIAN-SYNDROME (19 FETUSES OR CHILDREN), Annales de genetique, 40(1), 1997, pp. 45-54
Authors:
CORMIERDAIRE V
WOLF C
MUNNICH A
LEMERRER M
NIVELON A
BONNEAU D
JOURNEL H
FELLMANN F
CHEVY F
ROUX C
Citation: V. Cormierdaire et al., ABNORMAL CHOLESTEROL-BIOSYNTHESIS IN THE SMITH-LEMLI-OPITZ AND THE LETHAL ACRODYSGENITAL SYNDROMES, European journal of pediatrics, 155(8), 1996, pp. 656-659
Authors:
FEREC C
VERLINGUE C
PARENT P
MORIN JF
CODET JP
RAULT G
DAGORNE M
LEMOIGNE A
JOURNEL H
ROUSSEY M
LEMAREC B
CATHELINE M
AUDREZET MP
MERCIER B
Citation: C. Ferec et al., NEONATAL SCREENING FOR CYSTIC-FIBROSIS - RESULT OF A PILOT-STUDY USING BOTH IMMUNOREACTIVE TRYPSINOGEN AND CYSTIC-FIBROSIS GENE MUTATION ANALYSES, Human genetics, 96(5), 1995, pp. 542-548
Authors:
BONNEAU D
SOUIED E
GERBER S
ROZET JM
DHAENS E
JOURNEL H
PLESSIS G
WEISSENBACH J
MUNNICH A
KAPLAN J
Citation: D. Bonneau et al., NO EVIDENCE OF GENETIC-HETEROGENEITY IN DOMINANT OPTIC ATROPHY, Journal of Medical Genetics, 32(12), 1995, pp. 951-953
Authors:
MATHIEU M
PIUSSAN C
THEPOT F
SERVILLE F
FONTA D
RUFFLER M
NIVELONCHEVALLIER A
TURCCAREL C
CHAUVEAU P
MOIROT H
CHABROLLE JP
MOTTE J
ESCHARD C
CROQUETTE MF
JOURNEL H
TURLEAU C
GOUGET A
PELISSIER MC
TEYSSIER M
PLAUCHU H
AMBLARD F
GILGENKRANZ S
LEMERRER M
PRIEUR M
Citation: M. Mathieu et al., IS PALLISTER-KILLIAN SYNDROME UNDERDIAGNOSED - A FRENCH COLLABORATIVESTUDY OF MOSAIC TETRASOMY 12P, American journal of human genetics, 57(4), 1995, pp. 532-532
Authors:
SCHRANDERSTUMPEL C
MEINECKE P
WILSON G
GILLESSENKAESBACH G
TINSCHERT S
KONIG R
PHILIP N
RIZZO R
SCHRANDER J
PFEIFFER L
MAATKIEVIT A
VANDERBURGT I
VANESSEN T
LATTA E
HILLIG U
VERLOES A
JOURNEL H
FRYNS JP
Citation: C. Schranderstumpel et al., THE KABUKI (NIIKAWA-KUROKI) SYNDROME - FURTHER DELINEATION OF THE PHENOTYPE IN 29 NON-JAPANESE PATIENTS, European journal of pediatrics, 153(6), 1994, pp. 438-445
Authors:
LEBRIS MJ
GIOVANGRANDI Y
AUDREZET MP
JOURNEL H
FEREC C
Citation: Mj. Lebris et al., CONFINED PLACENTAL TRISOMY-7 - PITFALL FOR CYSTIC-FIBROSIS PRENATAL-DIAGNOSIS, Lancet, 344(8921), 1994, pp. 556-556
Authors:
EDERY P
PELET A
MULLIGAN LM
ABEL L
ATTIE T
DOW E
BONNEAU D
DAVID A
FLINTOFF W
JAN D
JOURNEL H
LACOMBE D
LEMERRER M
MEIJERS C
PARENT P
PHILIP N
PLAUCHU H
SARDA P
VERLOES A
NIHOULFEKETE C
WILLIAMSON R
PONDER BAJ
MUNNICH A
LYONNET S
Citation: P. Edery et al., LONG-SEGMENT AND SHORT SEGMENT FAMILIAL HIRSCHSPRUNGS-DISEASE - VARIABLE CLINICAL EXPRESSION AT THE RET LOCUS, Journal of Medical Genetics, 31(8), 1994, pp. 602-606
Authors:
DORVAL I
ODENT S
JEZEQUEL P
JOURNEL H
CHAUVEL B
DABADIE A
ROUSSEY M
LEGALL JY
LEMAREC B
DAVID V
BLAYAU M
Citation: I. Dorval et al., ANALYSIS OF 160-CF CHROMOSOMES - DETECTION OF A NOVEL MUTATION IN EXON-20, Human genetics, 91(3), 1993, pp. 254-256
Risultati:
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