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A study of the cognitive and psychological profile in 16 children with congenital or juvenile myotonic dystrophy

Clinical genetics, 1997-09, Vol.52 (3), p.135-141

1997

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Melkersson‐Rosenthal syndrome and de novo autosomal t(9;21)(p11;p11) translocation

Clinical genetics, 1994-06, Vol.45 (6), p.323-324

1994

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Congenital scalp defect, distal limb reduction anomalies, right spastic hemiplegia and hypoplasia of the left arteria cerebri media: Further evidence that interruption of early embryonic blood supply may result in Adams‐Oliver (plus) syndrome

Clinical genetics, 1996-12, Vol.50 (6), p.505-509

1996

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Charcot-Marie-Tooth type 1B neuropathy: third mutation of serine 63 codon in the major peripheral myelin glycoprotein P0 gene

Clinical genetics, 1995-12, Vol.48 (6), p.281-283

1995

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Trisomy of the short arm of chromosome 5: autopsy data in a malformed newborn with inv dup (5)(p13.1 → p15.3)

Clinical genetics, 1987-07, Vol.32 (1), p.49-56

1987

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Cohen syndrome: the clinical symptoms and stigmata at a young age

Clinical genetics, 1996-05, Vol.49 (5), p.237-241

1996

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Adults with Williams-Beuren syndrome: evaluation of the medical, psychological and behavioral aspects

Clinical genetics, 1994-08, Vol.46 (2), p.161-167

1994

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Further evidence for the location of the blepharophimosis syndrome (BPES) at 3q22.3-q23

Clinical genetics, 1993-09, Vol.44 (3), p.149-151

1993

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The Floating‐Harbor syndrome: two affected siblings in a family

Clinical genetics, 1996-10, Vol.50 (4), p.217-219

1996

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Submicroscopic deletion in chromosome 22q11 in trizygous triplet siblings and their father Clinical variability of 22q11 deletion

Clinical genetics, 1997-04, Vol.51 (4), p.246-249

1997

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New allele of probe D17S61 present in the Charcot-Marie-Tooth 1A duplication

Clinical genetics, 1994-11, Vol.46 (5), p.380-381

1994

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On two patients with and without the classical Wolf-Hirschhorn syndrome (WHS) sharing the same chromosome 4p16.3 specific probe deletion: evidence of a contiguous gene deletion syndrome

Clinical genetics, 1996-07, Vol.50 (1), p.19-22

1996

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Alopecia-mental retardation syndrome associated with convulsions and hypergonadotropic hypogonadism

Clinical genetics, 1996-01, Vol.49 (1), p.6-9

1996

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Tetraploidy with hydrops fetalis, cystic nuchal hygroma and 90, XX karyotype

Clinical genetics, 1987-03, Vol.31 (3), p.158-160

1987

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Prenatal growth retardation, microphthalmos/iris coloboma, cloudy cornea, urogenital anomalies and microcephaly. A possible new sublethal syndrome

Clinical genetics, 1997-03, Vol.51 (3), p.164-166

1997

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Fragile (X) syndrome: a study of the psychological profile in 23 prepubertal patients

Clinical genetics, 1987-09, Vol.32 (3), p.179-186

1987

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A Rsal RFLP at the human myelin protein zero (MPZ) locus

Clinical genetics, 1994-10, Vol.46 (4), p.327-328

1994

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A RsaI RFLP at the human myelin protein zero (MPZ) locus

Clinical genetics, 1994-10, Vol.46 (4), p.327-328

1994

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Predictive and preimplantation genetic testing for Huntington's disease and other late onset dominant disorders: not in conflict but complementary

Clinical genetics, 1996-10, Vol.50 (4), p.275-276

1996

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Charcot-Marie-Tooth type 1B neuropathy: third mutation of serine 63 codon in the major peripheral myelin glycoprotein PO gene

Clinical genetics, 1995-12, Vol.48 (6), p.281-283

1995

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The hand-foot-genital syndrome: on the variable expression in affected males

Clinical genetics, 1993-05, Vol.43 (5), p.232-234

1993

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Distal 11q monosomy. The typical 11q monosomy syndrome is due to deletion of subband 11q24.1

Clinical genetics, 1986-10, Vol.30 (4), p.255-260

1986

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Macrocephaly, distinct craniofacial appearance and spastic paraplegia: an autosomal recessive subtype of complicated spastic paraplegia

Clinical genetics, 1994-05, Vol.45 (5), p.228-230

1994

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Frontonasal malformation and reciprocal translocation t(15;22)(q22;q13)

Clinical genetics, 1993-07, Vol.44 (1), p.46-47

1993

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The psychological profile of the fragile X syndrome

Clinical genetics, 1984-02, Vol.25 (2), p.131-134

1984

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A study of the cognitive and psychological profile in 16 children with congenital or juvenile myotonic dystrophy

Melkersson‐Rosenthal syndrome and de novo autosomal t(9;21)(p11;p11) translocation

Congenital scalp defect, distal limb reduction anomalies, right spastic hemiplegia and hypoplasia of the left arteria cerebri media: Further evidence that interruption of early embryonic blood supply may result in Adams‐Oliver (plus) syndrome

Charcot-Marie-Tooth type 1B neuropathy: third mutation of serine 63 codon in the major peripheral myelin glycoprotein P0 gene

Trisomy of the short arm of chromosome 5: autopsy data in a malformed newborn with inv dup (5)(p13.1 → p15.3)

Cohen syndrome: the clinical symptoms and stigmata at a young age

Adults with Williams-Beuren syndrome: evaluation of the medical, psychological and behavioral aspects

Further evidence for the location of the blepharophimosis syndrome (BPES) at 3q22.3-q23

The Floating‐Harbor syndrome: two affected siblings in a family

Submicroscopic deletion in chromosome 22q11 in trizygous triplet siblings and their father Clinical variability of 22q11 deletion

New allele of probe D17S61 present in the Charcot-Marie-Tooth 1A duplication

On two patients with and without the classical Wolf-Hirschhorn syndrome (WHS) sharing the same chromosome 4p16.3 specific probe deletion: evidence of a contiguous gene deletion syndrome

Alopecia-mental retardation syndrome associated with convulsions and hypergonadotropic hypogonadism

Tetraploidy with hydrops fetalis, cystic nuchal hygroma and 90, XX karyotype

Prenatal growth retardation, microphthalmos/iris coloboma, cloudy cornea, urogenital anomalies and microcephaly. A possible new sublethal syndrome

Fragile (X) syndrome: a study of the psychological profile in 23 prepubertal patients

A Rsal RFLP at the human myelin protein zero (MPZ) locus

A RsaI RFLP at the human myelin protein zero (MPZ) locus

Predictive and preimplantation genetic testing for Huntington's disease and other late onset dominant disorders: not in conflict but complementary

Charcot-Marie-Tooth type 1B neuropathy: third mutation of serine 63 codon in the major peripheral myelin glycoprotein PO gene

The hand-foot-genital syndrome: on the variable expression in affected males

Distal 11q monosomy. The typical 11q monosomy syndrome is due to deletion of subband 11q24.1

Macrocephaly, distinct craniofacial appearance and spastic paraplegia: an autosomal recessive subtype of complicated spastic paraplegia

Frontonasal malformation and reciprocal translocation t(15;22)(q22;q13)

The psychological profile of the fragile X syndrome

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