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Results: 1-16 |
Results: 16
ACRO-RENAL-OCULAR SYNDROME - EXPANSION OF THE PHENOTYPE
Authors: GUILLENNAVARRO E WALLERSTEIN R REICH E ZAJAC L OSTRER H
Citation: E. Guillennavarro et al., ACRO-RENAL-OCULAR SYNDROME - EXPANSION OF THE PHENOTYPE, Clinical dysmorphology, 7(4), 1998, pp. 243-248
A NEW FORM OF COMPLICATED HEREDITARY SPASTIC PARAPLEGIA WITH CATARACTS, ATRETIC EAR CANALS AND HYPOPIGMENTATION
Authors: GUILLENNAVARRO E WALLERSTEIN R MORAN E CHU ML GRANT A
Citation: E. Guillennavarro et al., A NEW FORM OF COMPLICATED HEREDITARY SPASTIC PARAPLEGIA WITH CATARACTS, ATRETIC EAR CANALS AND HYPOPIGMENTATION, Clinical neurology and neurosurgery, 100(1), 1998, pp. 64-67
GENETIC SCREENING OF PROSPECTIVE OOCYTE DONORS
Authors: WALLERSTEIN R JANSEN V GRIFO JA BERKELEY AS NOYES N LICKER J LICCIARDI F
Citation: R. Wallerstein et al., GENETIC SCREENING OF PROSPECTIVE OOCYTE DONORS, Fertility and sterility, 70(1), 1998, pp. 52-55
NOVEL ITGB4 MUTATIONS IN LETHAL AND NONLETHAL VARIANTS OF EPIDERMOLYSIS-BULLOSA WITH PYLORIC ATRESIA - MISSENSE VERSUS NONSENSE
Authors: PULKKINEN L ROUAN F BRUCKNERTUDERMAN L WALLERSTEIN R GARZON M BROWN T SMITH L CARTER W UITTO J
Citation: L. Pulkkinen et al., NOVEL ITGB4 MUTATIONS IN LETHAL AND NONLETHAL VARIANTS OF EPIDERMOLYSIS-BULLOSA WITH PYLORIC ATRESIA - MISSENSE VERSUS NONSENSE, American journal of human genetics, 63(5), 1998, pp. 1376-1387
CONGENITAL DIAPHRAGMATIC-HERNIA AND IPSILATERAL LIMB REDUCTION DEFECT- A NEW CASE, LONG-TERM FOLLOW-UP AND REVIEW OF THE LITERATURE
Authors: WALLERSTEIN R WALLERSTEIN DF TRAUFFER P DESPOSITO F
Citation: R. Wallerstein et al., CONGENITAL DIAPHRAGMATIC-HERNIA AND IPSILATERAL LIMB REDUCTION DEFECT- A NEW CASE, LONG-TERM FOLLOW-UP AND REVIEW OF THE LITERATURE, Clinical dysmorphology, 6(3), 1997, pp. 257-261
ROBINOW-SYNDROME WITH DEVELOPMENTAL BRAIN DYSPLASIA
Authors: GUILLENNAVARRO E WALLERSTEIN R REICH E ZAJAC L OSTRER H
Citation: E. Guillennavarro et al., ROBINOW-SYNDROME WITH DEVELOPMENTAL BRAIN DYSPLASIA, American journal of medical genetics, 73(1), 1997, pp. 98-99
RING CHROMOSOME-4 MOSAICISM COINCIDENCE OF OLIGOMEGANEPHRONIA AND SIGNS OF SECKEL SYNDROME
Authors: ANDERSON CE WALLERSTEIN R ZAMEROWSKI ST WITZLEBEN C HOYER JR GIBAS L JACKSON LG
Citation: Ce. Anderson et al., RING CHROMOSOME-4 MOSAICISM COINCIDENCE OF OLIGOMEGANEPHRONIA AND SIGNS OF SECKEL SYNDROME, American journal of medical genetics, 72(3), 1997, pp. 281-285
LATERAL MENINGOCELE SYNDROME - 3 NEW PATIENTS AND REVIEW OF THE LITERATURE
Authors: GRIPP KW SCOTT CI HUGHES HE WALLERSTEIN R NICHOLSON L STATES L BASON LD KAPLAN P ZDERIC SA DUHAIME AC MILLER F MAGNUSSON MR ZACKAI EH
Citation: Kw. Gripp et al., LATERAL MENINGOCELE SYNDROME - 3 NEW PATIENTS AND REVIEW OF THE LITERATURE, American journal of medical genetics, 70(3), 1997, pp. 229-239
EXTENDED SURVIVAL IN A NEW CASE OF TER HAAR SYNDROME - FURTHER DELINEATION OF THE SYNDROME
Authors: WALLERSTEIN R SCOTT CI NICHOLSON L
Citation: R. Wallerstein et al., EXTENDED SURVIVAL IN A NEW CASE OF TER HAAR SYNDROME - FURTHER DELINEATION OF THE SYNDROME, American journal of medical genetics, 70(3), 1997, pp. 267-272
DUBOWITZ SYNDROME IN A BOY WITHOUT DEVELOPMENTAL DELAY - FURTHER EVIDENCE FOR PHENOTYPIC VARIABILITY
Authors: WALLERSTEIN R KACMAR J ANDERSON CE JACKSON L
Citation: R. Wallerstein et al., DUBOWITZ SYNDROME IN A BOY WITHOUT DEVELOPMENTAL DELAY - FURTHER EVIDENCE FOR PHENOTYPIC VARIABILITY, American journal of medical genetics, 68(2), 1997, pp. 216-218
SUBMICROSCOPIC DELETIONS AT 16P13.3 IN RUBINSTEIN-TAYBI SYNDROME - FREQUENCY AND CLINICAL MANIFESTATIONS IN A NORTH-AMERICAN POPULATION
Authors: WALLERSTEIN R ANDERSON CE HAY B GUPTA P GIBAS L ANSARI K COWCHOCK FS WEINBLATT V REID C LEVITAS A JACKSON L
Citation: R. Wallerstein et al., SUBMICROSCOPIC DELETIONS AT 16P13.3 IN RUBINSTEIN-TAYBI SYNDROME - FREQUENCY AND CLINICAL MANIFESTATIONS IN A NORTH-AMERICAN POPULATION, Journal of Medical Genetics, 34(3), 1997, pp. 203-206
DIAGNOSIS OF A COMPLEX CHROMOSOMAL REARRANGEMENT USING FLUORESCENT IN-SITU HYBRIDIZATION
Authors: WALLERSTEIN R GIBAS L ANDERSON CE JACKSON L
Citation: R. Wallerstein et al., DIAGNOSIS OF A COMPLEX CHROMOSOMAL REARRANGEMENT USING FLUORESCENT IN-SITU HYBRIDIZATION, Journal of Medical Genetics, 33(9), 1996, pp. 793-794
VARIABILITY OF THE RING-13 PHENOTYPE
Authors: ANDERSON CE WALLERSTEIN R JACKSON L WALLERSTEIN DF SHIH LY DESPOSITO F AVIV H
Citation: Ce. Anderson et al., VARIABILITY OF THE RING-13 PHENOTYPE, American journal of human genetics, 57(4), 1995, pp. 592-592
RUBENSTEIN-TAYBI-SYNDROME IN AN INDIVIDUAL WITH A (1-16) TRANSLOCATION WITHOUT DELETION OF THE 16P13.3 REGION BY IN-SITU HYBRIDIZATION WITHTHE RT1 PROBE - FURTHER EVIDENCE FOR A CRITICAL REGION, BUT PERHAPS ADIFFERENT MECHANISM
Authors: JACKSON LG WALLERSTEIN R GUPTA P GIBAS L ANDERSON CE LIEBOWITZ M GIAMPETRO P DAVIS JG
Citation: Lg. Jackson et al., RUBENSTEIN-TAYBI-SYNDROME IN AN INDIVIDUAL WITH A (1-16) TRANSLOCATION WITHOUT DELETION OF THE 16P13.3 REGION BY IN-SITU HYBRIDIZATION WITHTHE RT1 PROBE - FURTHER EVIDENCE FOR A CRITICAL REGION, BUT PERHAPS ADIFFERENT MECHANISM, American journal of human genetics, 57(4), 1995, pp. 1242-1242
MULTIPLE BILATERAL MENINGOCELES IN A BOY WITH HYPOTONIA, LIGAMENTOUS LAXITY, PTOSIS, KYPHOSIS, AND MENTAL-RETARDATION
Authors: WALLERSTEIN R SCOTT CI NICHOLSON L
Citation: R. Wallerstein et al., MULTIPLE BILATERAL MENINGOCELES IN A BOY WITH HYPOTONIA, LIGAMENTOUS LAXITY, PTOSIS, KYPHOSIS, AND MENTAL-RETARDATION, American journal of human genetics, 57(4), 1995, pp. 1786-1786
ARE REFERRALS TO DEVELOPMENTAL PEDIATRICIANS APPROPRIATE - OUR EXPERIENCE OVER A 15-YEAR PERIOD
Authors: WALLERSTEIN R SESHADRI K
Citation: R. Wallerstein et K. Seshadri, ARE REFERRALS TO DEVELOPMENTAL PEDIATRICIANS APPROPRIATE - OUR EXPERIENCE OVER A 15-YEAR PERIOD, Clinical pediatrics, 33(9), 1994, pp. 564-568
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